Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood...

Hyperphalangism dysmorphy bronchomalacia Hyperphenylalaninemia Hyperphenylalaninemia due to pterin-4-alpha-carbin Hyperphenylalaninemia due to dihydropteridine reductase...

Classical PKU, and its less severe forms "mild PKU" and "mild hyperphenylalaninemia" are caused by a mutated gene for the enzyme phenylalanine hydroxylase...

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...

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...

number of psychiatric symptoms. Biochemically, patients present with hyperphenylalaninemia, and usually have decreased levels of biopterin and neopterin in...

"Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism". American Journal of Human Genetics...

causes low levels of pain. Dried blood spot testing Galactosemia Hyperphenylalaninemia Newborn screening Guthrie Cards Archived 2016-12-01 at the Wayback...

dehydratase deficiency in the body can lead to a less severe condition of hyperphenylalaninemia, which involves an over presence of phenylalanine in the blood....

gene cause mild non-BH4-deficient hyperphenylalaninemia (HPANBH4), also called DNAJC12-deficient hyperphenylalaninemia or DNAJC12 deficiency. GRCh38: Ensembl...

PMID 1282802. Scriver CR, Clow CL, Kaplan P, Niederwieser A (1987). "Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual...

syndrome Mastroiacovo–Gambi–Segni syndrome MAT deficiency Maternal hyperphenylalaninemia Maternally inherited diabetes and deafness Mathieu–De Broca–Bony...

Hyperlysinemia AASS recessive Hyperoxaluria, primary AGXT, GRHPR, DHDPSL Hyperphenylalaninemia 12q Hypoalphalipoproteinemia (Tangier disease) ABCA1 Hypochondrogenesis...

because such drugs would induce the potentially highly dangerous hyperphenylalaninemia or phenylketonuria. Tyrosine hydroxylase inhibitors like metirosine...

clinical applications on account of their capacity for inducing hyperphenylalaninemia and phenylketonuria.[citation needed] Phenylalanine hydroxylase...

malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is a recessive disorder that is accompanied by hyperphenylalaninemia. Commonly...

the majority of BH4 deficiencies, AD-GTPCHD does not present with hyperphenylalaninemia, and is therefore missed during newborn screening. Furthermore,...

biosynthesis. Deficiency in PAH activity due to mutations in PAH causes hyperphenylalaninemia (HPA), and when blood phenylalanine levels increase above 20 times...

neurotransmitters. Biopterin synthesis disorders are also a cause of hyperphenylalaninemia; phenylalanine metabolism requires BH4 as a cofactor. In psychiatry...

phenylalanine, causing elevated levels of Phe in the bloodstream (hyperphenylalaninemia) and mental retardation if therapy is not begun at birth. In May...

Phenylketonuria (PKU) Tetrahydrobiopterin (THB, BH4) Mild non-BH4-deficient hyperphenylalaninemia - disorder arising due to mutations of the DNAJC12 gene. Ponzone...

1970;48:390-397. Lenke RR, Levy HL. Maternal Phenylketonuria and Hyperphenylalaninemia. An International Survey of the Outcome of Untreated and Treated...

deficiency. These may present with malignant phenylketonuria (PKU) and hyperphenylalaninemia (HPA) and lead to a lack of certain neurotransmitters (dopamine...

presents with such symptoms as elevated levels of phenylalanine (hyperphenylalaninemia), microcephaly, hypotonus, mental retardation and epileptic seizures...

errors of amino acid metabolism Tyrosinemia II Argininemia Benign hyperphenylalaninemia Defects of biopterin cofactor biosynthesis Defects of biopterin...

of tetrahydrobiopterin. Tetrahydrobiopterin deficiency leads to hyperphenylalaninemia and the inability to make neurotransmitters such as dopamine and...

233910; GCH1 Hyperphenylalaninemia, BH4-deficient, A; 261640; PTS Hyperphenylalaninemia, BH4-deficient, C; 261630; QDPR Hyperphenylalaninemia, BH4-deficient...

tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia". Am. J. Hum. Genet. 69 (2): 269–277. doi:10.1086/321970. PMC 1235302...