Definition of Hyperphenylalaninemia. Meaning of Hyperphenylalaninemia. Synonyms of Hyperphenylalaninemia

- Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood...
- classical PKU, and its less severe forms "mild PKU" and "mild hyperphenylalaninemia" are caused by a mutated gene for the enzyme phenylalanine hydroxylase...
- Hyperphalangism dysmorphy bronchomalacia Hyperphenylalaninemia Hyperphenylalaninemia due to pterin-4-alpha-carbin Hyperphenylalaninemia due to dihydropteridine reductase...
- to 60 μmol/L. A (rare) "variant form" of phenylketonuria called hyperphenylalaninemia is caused by the inability to synthesize a cofactor called tetrahydrobiopterin...
- and in conjunction with phenylalanine administration, induces hyperphenylalaninemia analogous to that in phenylketonuria in animals. The drug is known...
- puberty. Pterin-4 alpha-carbinolamine dehydratase deficiency causes hyperphenylalaninemia and therefore can be suspected upon finding elevated levels of phenylalanine...
- Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is a rare metabolic disorder characterized by mild hyperphenylalaninemia (HPA) and a range of variable...
- "Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism". American Journal of Human Genetics...
- number of psychiatric symptoms. Biochemically, patients present with hyperphenylalaninemia, and usually have decreased levels of biopterin and neopterin in...
- gene cause mild non-BH4-deficient hyperphenylalaninemia (HPANBH4), also called DNAJC12-deficient hyperphenylalaninemia or DNAJC12 deficiency. GRCh38: Ensembl...