Definition of Hyperphenylalaninemia. Meaning of Hyperphenylalaninemia. Synonyms of Hyperphenylalaninemia

Here you will find one or more explanations in English for the word Hyperphenylalaninemia. Also in the bottom left of the page several parts of wikipedia pages related to the word Hyperphenylalaninemia and, of course, Hyperphenylalaninemia synonyms and on the right images related to the word Hyperphenylalaninemia.

Definition of Hyperphenylalaninemia

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Meaning of Hyperphenylalaninemia from wikipedia

- 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...
- Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is a rare metabolic disorder characterized by mild hyperphenylalaninemia (HPA) and a range of variable...
- puberty. Pterin-4 alpha-carbinolamine dehydratase deficiency causes hyperphenylalaninemia and therefore can be suspected upon finding elevated levels of phenylalanine...
- malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is a recessive disorder that is accompanied by hyperphenylalaninemia. Commonly...
- symptoms.[citation needed] Biochemically, patients present with hyperphenylalaninemia, and usually have decreased levels of biopterin and neopterin in...
- the majority of BH4 deficiencies, AD-GTPCHD does not present with hyperphenylalaninemia, and is therefore missed during newborn screening. Furthermore,...
- States. Dried blood spot testing Galactosemia Heel stick wound Hyperphenylalaninemia Newborn screening Guthrie Cards Archived 2016-12-01 at the Wayback...