The talk given by Dr Ragna Folling Elgjo was a very good talk, she is one of the best narrators that I have heard speak not in her native language, she is Norwegian as are so many of the early PKU pioneers. The condition is more common in Scandinavian countries than in the UK as the condition has been traced back to its origins there being the first of the inbred metabolic disorders, and brought to the UK during the 7th Century. My dad likes to think that "The Vikings did more than pillage Britain"

Her speech centered on her father's work, personality and family ties. She spoke of his kindness which is directly related to his work on PKU. A mother with two young retarded children brought them to him in the hopes that his biochemical research could shed some answers, as both appeared healthy at birth but gradually declined into severe disability. He tested the urine of each child with Ferrie Chloride searching for a chemical known as Ketonuria which is found in diabetic patients and the results instead of turning red, morphed into an olive colour before dissolving again with a distinctive smell. After many patient weeks of testing he had finally traced the product produced down to the chemical C9 H8 O3 or Phenylpyruvic Acid as it is known. For his work in this field of mental retardation in children he received the Kennedy award, having the honour of being presented with this be President Kennedy himself.

Using this information other doctors and dietitians formulated diets and nutrition programs with the best being developed by Dr Hurst Picpkel and Dr Ursula Watchel (who I have had the pleasure of meeting at the conference.)

Dr Davidson began his talk by talking about one of his first patients going onto the PKU diet and described it as an "Awakening" from being a closed in quiet child with severe disability to an outgoing happy child, although he had no cure for the disability he and the patient's family were happy with the results. During his work at the Liverpool Hospital he was able to begin screening his patients using the "Gutherie Test" which has now been compulsory for all new born children over the age of seven days, since 1969. Since the introduction of the Gutherie test very few children are now born with PKU and remain undiagnosed. If however, a child remains undiagnosed they will be left with extreme disabilities. Thankfully, this is very rare now, although there are certain generic traits noticeable, a tendency towards blue eyes, fair hair and slight inflammations of the skin.

In 1993 Professor Forrest Coburn (my sister's first pediatric doctor) undertook a study which centered on the PKU lifestyle after coming off diet at the age of 10 years, it was found that though the results were not as drastic as in children there were concentration and memory problems relating to the Executive function of the brain. His results indicated to him that "the diet should be followed strictly as long as is possible." This is now taken to be a life long diet, with regular blood monitoring and close association with medical staff at local hospitals.

Pregnant PKU mothers were of great trouble to Dr Davidson as they had a very fine line to walk, regarding the developing child within their womb. His studies show that the mother should follow the diet even more strictly before conception and especially after conception in the first few months of the child's development. He found that maternity hospitals linked with sick children's hospitals to provide the best care and service for mother and child. I think this is more independent proof that the closure of the Queen Mother's Hospital in Glasgow all the more pointless and stupid.

The subject of mineral intake to produce healthy bones and growth within a PKU diet has been studied by Dr N.J. Shaw from Birmingham Children's Hospital. Dr Shaw spent the first half of his presentation presenting research tables explaining the studies and research into this project of the last 10 years in countries all around the world. Many of the researchers showed a normal increase in bone density up until the onset of puberty, in some cases even the age of 8 years old the effects of slow production were visible when compared with the "control samples."

The search for the cause for this has led to the study of the PKU diet with the results pointing to poor dietary compliance leading to a poor Z-score (unit for bone density) coupled with the other problems, such as memory and concentration noticed by other researches. The research has also led to the conclusion that high Phenylalanine levels have no effect on Z scores but low Calcium levels do have an effect.

He ended his talk with a comparison of siblings with and without PKU relating to fracture incidents and found that until the age of 8 years the results were non deviational, but after the age of 8 years the PKU child would statically be 2.6 times at risk of fractures. His closing remarks of the day were that although his research indicated mineral supplements were improving the Z scores of PKU patients, he did not advocate the use of such supplements as enough research has not yet been carried out regarding the long term health issues.

Dr Linda Tyfield is a wonderful speaker, knowing when to speak slowly and clearly enough for the foreign dignetaries and when not to dwell on trivial details that other presenters get caught up with. I enjoyed her talk the most of all the presentations that I attended this weekend and found hers the most relevent to my intrests of PKU.

Her talk involved the introduction of PKU as a range of disorders, not simply one. They can range in severity but all have the same result, phenylketones in the urine and high levels of phenylalanine in the blood. Genetic analysis has provided proof of more than 460 mutations worldwide and although some are common most are rare. Through mutation analysis it has been possible to trace the migration of families though history across the world. She used a very effective set of slides showing the size of a man on earth's surface at vareying altitudes until being 10 million meters away from him we can see the Earth  as a small ball of blue and white. She then went in the opposite direction examing the man's skin until at 1/10 millionth metres we can see the DNA strands that cause PKU.

Her research into PKU has led her to find 1040 different chromosones causing PKU in her search for the defective enzyemes. She has been unable so far though to find 4% of her patients strains though which is around 40 more chromosones to map.

The NSPKU is currently developing a Self Management package for those with PKU. This is being pushed forwards by dietitians across the country, the report of their activities was given at this conference by Carol Ferguson.

The package has been developed to counter the growing knowledge gap and lack of participation in PKU children and adolescents. The aims of the package are to ensure dietary independence by the age of 16, so that when the child moves out he/she can cope with the diet without their parent constant checking up with them, this will also give the child sense of independence if involved at an early age. Even simple exercises such as toasting low protein bread will give the child a sense of involvement.

Activities were developed to counter 5 subjects that seemed to cause particular concerns, these being :

What is PKU?

Genetics

Blood Monitoring

Food and Diet

Coping With PKU

Relevant activities included games, such as barometers showing blood levels and workshops where young PKU's may talk with Adult PKU's asking questions about how they coped with diet in younger life. It is hoped that this will improve the self-esteem of 7-11 year olds who often feel they are "different" from others.

Tetrahydrobiopterin, (BH4), is a radical new approach to treatment of PKU, it works on the principle of providing replacement parts for the enzyme to allow it to react naturally. This means that a PKU sufferer could in theory consume a lot more protein exchanges each day, however tests are still ongoing. We know that maintaining the restricted diet is beneficial if not essential to preventing brain damage, but disagreements as how long this diet should last.

While still facing technical difficulties to replace the defective gene/enzyme that causes PKU, one new approach to treat at least some PKU patients seems to be a close reality. A relatively high percentage of those with mild PKU may benefit from a substitution with tetrahydrobiopterin (BH4) added to the amino acid supplement already taken each day which reduces plasma phenylalanine levels.

"BH4 can activate the specific mutated enzyme PAH,  by increasing the need for the BH4 substrate, by three- dimension structure stabilization, or by its chaperone-like activity. It has been shown that a number of DNA mutations correlate with BH4 responsiveness" - Nenad Blau

The main problem with BH4 is the relatively expensive costs of the drug and so far the lack of regulations by societies governing it's use.

For more information and BH4 responsive strains check the BIOPKU database

The talk given by Dr Ragna Folling Elgjo was a very good talk, she is one of the best narrators that I have heard speak not in her native language, she is Norwegian as are so many of the early PKU pioneers. The condition is more common in Scandinavian countries than in the UK as the condition has been traced back to its origins there being the first of the inbred metabolic disorders, and brought to the UK during the 7th Century. My dad likes to think that "The Vikings did more than pillage Britain"

Her speech centered on her father's work, personality and family ties. She spoke of his kindness which is directly related to his work on PKU. A mother with two young retarded children brought them to him in the hopes that his biochemical research could shed some answers, as both appeared healthy at birth but gradually declined into severe disability. He tested the urine of each child with Ferrie Chloride searching for a chemical known as Ketonuria which is found in diabetic patients and the results instead of turning red, morphed into an olive colour before dissolving again with a distinctive smell. After many patient weeks of testing he had finally traced the product produced down to the chemical C9 H8 O3 or Phenylpyruvic Acid as it is known. For his work in this field of mental retardation in children he received the Kennedy award, having the honour of being presented with this be President Kennedy himself.

Using this information other doctors and dietitians formulated diets and nutrition programs with the best being developed by Dr Hurst Picpkel and Dr Ursula Watchel (who I have had the pleasure of meeting at the conference.)

Dr Davidson began his talk by talking about one of his first patients going onto the PKU diet and described it as an "Awakening" from being a closed in quiet child with severe disability to an outgoing happy child, although he had no cure for the disability he and the patient's family were happy with the results. During his work at the Liverpool Hospital he was able to begin screening his patients using the "Gutherie Test" which has now been compulsory for all new born children over the age of seven days, since 1969. Since the introduction of the Gutherie test very few children are now born with PKU and remain undiagnosed. If however, a child remains undiagnosed they will be left with extreme disabilities. Thankfully, this is very rare now, although there are certain generic traits noticeable, a tendency towards blue eyes, fair hair and slight inflammations of the skin.

In 1993 Professor Forrest Coburn (my sister's first pediatric doctor) undertook a study which centered on the PKU lifestyle after coming off diet at the age of 10 years, it was found that though the results were not as drastic as in children there were concentration and memory problems relating to the Executive function of the brain. His results indicated to him that "the diet should be followed strictly as long as is possible." This is now taken to be a life long diet, with regular blood monitoring and close association with medical staff at local hospitals.

Pregnant PKU mothers were of great trouble to Dr Davidson as they had a very fine line to walk, regarding the developing child within their womb. His studies show that the mother should follow the diet even more strictly before conception and especially after conception in the first few months of the child's development. He found that maternity hospitals linked with sick children's hospitals to provide the best care and service for mother and child. I think this is more independent proof that the closure of the Queen Mother's Hospital in Glasgow all the more pointless and stupid.

The subject of mineral intake to produce healthy bones and growth within a PKU diet has been studied by Dr N.J. Shaw from Birmingham Children's Hospital. Dr Shaw spent the first half of his presentation presenting research tables explaining the studies and research into this project of the last 10 years in countries all around the world. Many of the researchers showed a normal increase in bone density up until the onset of puberty, in some cases even the age of 8 years old the effects of slow production were visible when compared with the "control samples."

The search for the cause for this has led to the study of the PKU diet with the results pointing to poor dietary compliance leading to a poor Z-score (unit for bone density) coupled with the other problems, such as memory and concentration noticed by other researches. The research has also led to the conclusion that high Phenylalanine levels have no effect on Z scores but low Calcium levels do have an effect.

He ended his talk with a comparison of siblings with and without PKU relating to fracture incidents and found that until the age of 8 years the results were non deviational, but after the age of 8 years the PKU child would statically be 2.6 times at risk of fractures. His closing remarks of the day were that although his research indicated mineral supplements were improving the Z scores of PKU patients, he did not advocate the use of such supplements as enough research has not yet been carried out regarding the long term health issues.

Dr Linda Tyfield is a wonderful speaker, knowing when to speak slowly and clearly enough for the foreign dignetaries and when not to dwell on trivial details that other presenters get caught up with. I enjoyed her talk the most of all the presentations that I attended this weekend and found hers the most relevent to my intrests of PKU.

Her talk involved the introduction of PKU as a range of disorders, not simply one. They can range in severity but all have the same result, phenylketones in the urine and high levels of phenylalanine in the blood. Genetic analysis has provided proof of more than 460 mutations worldwide and although some are common most are rare. Through mutation analysis it has been possible to trace the migration of families though history across the world. She used a very effective set of slides showing the size of a man on earth's surface at vareying altitudes until being 10 million meters away from him we can see the Earth  as a small ball of blue and white. She then went in the opposite direction examing the man's skin until at 1/10 millionth metres we can see the DNA strands that cause PKU.

Her research into PKU has led her to find 1040 different chromosones causing PKU in her search for the defective enzyemes. She has been unable so far though to find 4% of her patients strains though which is around 40 more chromosones to map.

The NSPKU is currently developing a Self Management package for those with PKU. This is being pushed forwards by dietitians across the country, the report of their activities was given at this conference by Carol Ferguson.

The package has been developed to counter the growing knowledge gap and lack of participation in PKU children and adolescents. The aims of the package are to ensure dietary independence by the age of 16, so that when the child moves out he/she can cope with the diet without their parent constant checking up with them, this will also give the child sense of independence if involved at an early age. Even simple exercises such as toasting low protein bread will give the child a sense of involvement.

Activities were developed to counter 5 subjects that seemed to cause particular concerns, these being :

What is PKU?

Genetics

Blood Monitoring

Food and Diet

Coping With PKU

Relevant activities included games, such as barometers showing blood levels and workshops where young PKU's may talk with Adult PKU's asking questions about how they coped with diet in younger life. It is hoped that this will improve the self-esteem of 7-11 year olds who often feel they are "different" from others.

Tetrahydrobiopterin, (BH4), is a radical new approach to treatment of PKU, it works on the principle of providing replacement parts for the enzyme to allow it to react naturally. This means that a PKU sufferer could in theory consume a lot more protein exchanges each day, however tests are still ongoing. We know that maintaining the restricted diet is beneficial if not essential to preventing brain damage, but disagreements as how long this diet should last.

While still facing technical difficulties to replace the defective gene/enzyme that causes PKU, one new approach to treat at least some PKU patients seems to be a close reality. A relatively high percentage of those with mild PKU may benefit from a substitution with tetrahydrobiopterin (BH4) added to the amino acid supplement already taken each day which reduces plasma phenylalanine levels.

"BH4 can activate the specific mutated enzyme PAH,  by increasing the need for the BH4 substrate, by three- dimension structure stabilization, or by its chaperone-like activity. It has been shown that a number of DNA mutations correlate with BH4 responsiveness" - Nenad Blau

The main problem with BH4 is the relatively expensive costs of the drug and so far the lack of regulations by societies governing it's use.

For more information and BH4 responsive strains check the BIOPKU database

The talk given by Dr Ragna Folling Elgjo was a very good talk, she is one of the best narrators that I have heard speak not in her native language, she is Norwegian as are so many of the early PKU pioneers. The condition is more common in Scandinavian countries than in the UK as the condition has been traced back to its origins there being the first of the inbred metabolic disorders, and brought to the UK during the 7th Century. My dad likes to think that "The Vikings did more than pillage Britain"

Her speech centered on her father's work, personality and family ties. She spoke of his kindness which is directly related to his work on PKU. A mother with two young retarded children brought them to him in the hopes that his biochemical research could shed some answers, as both appeared healthy at birth but gradually declined into severe disability. He tested the urine of each child with Ferrie Chloride searching for a chemical known as Ketonuria which is found in diabetic patients and the results instead of turning red, morphed into an olive colour before dissolving again with a distinctive smell. After many patient weeks of testing he had finally traced the product produced down to the chemical C9 H8 O3 or Phenylpyruvic Acid as it is known. For his work in this field of mental retardation in children he received the Kennedy award, having the honour of being presented with this be President Kennedy himself.

Using this information other doctors and dietitians formulated diets and nutrition programs with the best being developed by Dr Hurst Picpkel and Dr Ursula Watchel (who I have had the pleasure of meeting at the conference.)

Dr Davidson began his talk by talking about one of his first patients going onto the PKU diet and described it as an "Awakening" from being a closed in quiet child with severe disability to an outgoing happy child, although he had no cure for the disability he and the patient's family were happy with the results. During his work at the Liverpool Hospital he was able to begin screening his patients using the "Gutherie Test" which has now been compulsory for all new born children over the age of seven days, since 1969. Since the introduction of the Gutherie test very few children are now born with PKU and remain undiagnosed. If however, a child remains undiagnosed they will be left with extreme disabilities. Thankfully, this is very rare now, although there are certain generic traits noticeable, a tendency towards blue eyes, fair hair and slight inflammations of the skin.

In 1993 Professor Forrest Coburn (my sister's first pediatric doctor) undertook a study which centered on the PKU lifestyle after coming off diet at the age of 10 years, it was found that though the results were not as drastic as in children there were concentration and memory problems relating to the Executive function of the brain. His results indicated to him that "the diet should be followed strictly as long as is possible." This is now taken to be a life long diet, with regular blood monitoring and close association with medical staff at local hospitals.

Pregnant PKU mothers were of great trouble to Dr Davidson as they had a very fine line to walk, regarding the developing child within their womb. His studies show that the mother should follow the diet even more strictly before conception and especially after conception in the first few months of the child's development. He found that maternity hospitals linked with sick children's hospitals to provide the best care and service for mother and child. I think this is more independent proof that the closure of the Queen Mother's Hospital in Glasgow all the more pointless and stupid.

The subject of mineral intake to produce healthy bones and growth within a PKU diet has been studied by Dr N.J. Shaw from Birmingham Children's Hospital. Dr Shaw spent the first half of his presentation presenting research tables explaining the studies and research into this project of the last 10 years in countries all around the world. Many of the researchers showed a normal increase in bone density up until the onset of puberty, in some cases even the age of 8 years old the effects of slow production were visible when compared with the "control samples."

The search for the cause for this has led to the study of the PKU diet with the results pointing to poor dietary compliance leading to a poor Z-score (unit for bone density) coupled with the other problems, such as memory and concentration noticed by other researches. The research has also led to the conclusion that high Phenylalanine levels have no effect on Z scores but low Calcium levels do have an effect.

He ended his talk with a comparison of siblings with and without PKU relating to fracture incidents and found that until the age of 8 years the results were non deviational, but after the age of 8 years the PKU child would statically be 2.6 times at risk of fractures. His closing remarks of the day were that although his research indicated mineral supplements were improving the Z scores of PKU patients, he did not advocate the use of such supplements as enough research has not yet been carried out regarding the long term health issues.

Dr Linda Tyfield is a wonderful speaker, knowing when to speak slowly and clearly enough for the foreign dignetaries and when not to dwell on trivial details that other presenters get caught up with. I enjoyed her talk the most of all the presentations that I attended this weekend and found hers the most relevent to my intrests of PKU.

Her talk involved the introduction of PKU as a range of disorders, not simply one. They can range in severity but all have the same result, phenylketones in the urine and high levels of phenylalanine in the blood. Genetic analysis has provided proof of more than 460 mutations worldwide and although some are common most are rare. Through mutation analysis it has been possible to trace the migration of families though history across the world. She used a very effective set of slides showing the size of a man on earth's surface at vareying altitudes until being 10 million meters away from him we can see the Earth  as a small ball of blue and white. She then went in the opposite direction examing the man's skin until at 1/10 millionth metres we can see the DNA strands that cause PKU.

Her research into PKU has led her to find 1040 different chromosones causing PKU in her search for the defective enzyemes. She has been unable so far though to find 4% of her patients strains though which is around 40 more chromosones to map.

The NSPKU is currently developing a Self Management package for those with PKU. This is being pushed forwards by dietitians across the country, the report of their activities was given at this conference by Carol Ferguson.

The package has been developed to counter the growing knowledge gap and lack of participation in PKU children and adolescents. The aims of the package are to ensure dietary independence by the age of 16, so that when the child moves out he/she can cope with the diet without their parent constant checking up with them, this will also give the child sense of independence if involved at an early age. Even simple exercises such as toasting low protein bread will give the child a sense of involvement.

Activities were developed to counter 5 subjects that seemed to cause particular concerns, these being :

What is PKU?

Genetics

Blood Monitoring

Food and Diet

Coping With PKU

Relevant activities included games, such as barometers showing blood levels and workshops where young PKU's may talk with Adult PKU's asking questions about how they coped with diet in younger life. It is hoped that this will improve the self-esteem of 7-11 year olds who often feel they are "different" from others.

Tetrahydrobiopterin, (BH4), is a radical new approach to treatment of PKU, it works on the principle of providing replacement parts for the enzyme to allow it to react naturally. This means that a PKU sufferer could in theory consume a lot more protein exchanges each day, however tests are still ongoing. We know that maintaining the restricted diet is beneficial if not essential to preventing brain damage, but disagreements as how long this diet should last.

While still facing technical difficulties to replace the defective gene/enzyme that causes PKU, one new approach to treat at least some PKU patients seems to be a close reality. A relatively high percentage of those with mild PKU may benefit from a substitution with tetrahydrobiopterin (BH4) added to the amino acid supplement already taken each day which reduces plasma phenylalanine levels.

"BH4 can activate the specific mutated enzyme PAH,  by increasing the need for the BH4 substrate, by three- dimension structure stabilization, or by its chaperone-like activity. It has been shown that a number of DNA mutations correlate with BH4 responsiveness" - Nenad Blau

The main problem with BH4 is the relatively expensive costs of the drug and so far the lack of regulations by societies governing it's use.

For more information and BH4 responsive strains check the BIOPKU database