loading...| Preferred Name | Hyperphenylalaninemia | |
| Synonyms |
HPA |
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| Definitions |
(HPA) - Mildest form of phenylalanine hydroxylase deficiency. - (Non-PKU HPA) - Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. - (PKU) - Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. |
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| ID |
http://identifiers.org/omim/261600 |
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| altLabel |
HPA |
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| definition |
(HPA) - Mildest form of phenylalanine hydroxylase deficiency. - (Non-PKU HPA) - Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. - (PKU) - Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. |
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| id |
OMIM:261600 |
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| notation |
OMIM:261600 |
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| prefLabel |
Hyperphenylalaninemia |
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| subClassOf |