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Medical condition
Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood
Hyperphenylalaninemia
Amino acid metabolic disorder
Classical PKU, and its less severe forms "mild PKU" and "mild hyperphenylalaninemia" are caused by a mutated gene for the enzyme phenylalanine hydroxylase
Phenylketonuria
Medication
brand name Sephience, is a medication used for the treatment of hyperphenylalaninemia. Sepiapterin is a phenylalanine hydroxylase activator. It is also
Sepiapterin
Monoamine metabolism inhibitor
and in conjunction with phenylalanine administration, induces hyperphenylalaninemia analogous to that in phenylketonuria in animals. The drug is known
Α-Methylphenylalanine
Medical condition
puberty. Pterin-4 alpha-carbinolamine dehydratase deficiency causes hyperphenylalaninemia and therefore can be suspected upon finding elevated levels of phenylalanine
Pterin-4 alpha-carbinolamine dehydratase deficiency
Pterin-4_alpha-carbinolamine_dehydratase_deficiency
Type of α-amino acid
to 60 μmol/L. A (rare) "variant form" of phenylketonuria called hyperphenylalaninemia is caused by the inability to synthesize a cofactor called tetrahydrobiopterin
Phenylalanine
Medical condition
number of psychiatric symptoms. Biochemically, patients present with hyperphenylalaninemia, and usually have decreased levels of biopterin and neopterin in
Autosomal recessive GTP cyclohydrolase I deficiency
Autosomal_recessive_GTP_cyclohydrolase_I_deficiency
Metabolic disorder
Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is a rare metabolic disorder characterized by mild hyperphenylalaninemia (HPA) and a range of variable
Mild non-BH4-deficient hyperphenylalaninemia
Mild_non-BH4-deficient_hyperphenylalaninemia
Protein-coding gene in the species Homo sapiens
"Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism". American Journal of Human Genetics
PCBD1
Chemical compound
ISSN 0272-2666. Güttler, F.; Lou, H. (1990). "Phenylketonuria and Hyperphenylalaninemia". Inborn Metabolic Diseases: 161–174. doi:10.1007/978-3-662-02613-7_13
Phenylacetic_acid
Medical condition
malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is a recessive disorder that is accompanied by hyperphenylalaninemia. Commonly
6-Pyruvoyltetrahydropterin synthase deficiency
6-Pyruvoyltetrahydropterin_synthase_deficiency
Hyperphalangism dysmorphy bronchomalacia Hyperphenylalaninemia Hyperphenylalaninemia due to pterin-4-alpha-carbin Hyperphenylalaninemia due to dihydropteridine reductase
List_of_diseases_(H)
Medical condition
the majority of BH4 deficiencies, AD-GTPCHD does not present with hyperphenylalaninemia, and is therefore missed during newborn screening. Furthermore,
Autosomal dominant GTP cyclohydrolase I deficiency
Autosomal_dominant_GTP_cyclohydrolase_I_deficiency
Protein-coding gene in the species Homo sapiens
gene cause mild non-BH4-deficient hyperphenylalaninemia (HPANBH4), also called DNAJC12-deficient hyperphenylalaninemia or DNAJC12 deficiency. GRCh38: Ensembl
DnaJ heat shock protein family (Hsp40) member C12
DnaJ_heat_shock_protein_family_(Hsp40)_member_C12
Chemical compound
clinical applications on account of their capacity for inducing hyperphenylalaninemia and phenylketonuria.[citation needed] Phenylalanine hydroxylase
3,4-Dihydroxystyrene
Hyperlysinemia AASS recessive Hyperoxaluria, primary AGXT, GRHPR, DHDPSL Hyperphenylalaninemia 12q Hypoalphalipoproteinemia (Tangier disease) ABCA1 Hypochondrogenesis
List_of_genetic_disorders
Substance related to dopamine functions
because such drugs would induce the potentially highly dangerous hyperphenylalaninemia or phenylketonuria. Tyrosine hydroxylase inhibitors like metirosine
Dopaminergic
Chemical compound
neurotransmitters. Biopterin synthesis disorders are also a cause of hyperphenylalaninemia; phenylalanine metabolism requires BH4 as a cofactor. In psychiatry
Biopterin
Blood collection procedure for newborns
the child and causes low levels of pain. Dried blood spot testing Hyperphenylalaninemia Newborn screening Guthrie Cards Archived 1 December 2016 at the
Neonatal_heel_prick
American geneticist
1970;48:390-397. Lenke RR, Levy HL. Maternal Phenylketonuria and Hyperphenylalaninemia. An International Survey of the Outcome of Untreated and Treated
Harvey_Levy_(academic)
syndrome Mastroiacovo–Gambi–Segni syndrome MAT deficiency Maternal hyperphenylalaninemia Maternally inherited diabetes and deafness Mathieu–De Broca–Bony
List_of_diseases_(M)
Medical condition
Phenylketonuria (PKU) Tetrahydrobiopterin (THB, BH4) Mild non-BH4-deficient hyperphenylalaninemia - disorder arising due to mutations of the DNAJC12 gene. Ponzone
Tetrahydrobiopterin deficiency
Tetrahydrobiopterin_deficiency
Enzyme
deficiency. These may present with malignant phenylketonuria (PKU) and hyperphenylalaninemia (HPA) and lead to a lack of certain neurotransmitters (dopamine
GTP_cyclohydrolase_I
Genetic metabolic disorder
presents with such symptoms as elevated levels of phenylalanine (hyperphenylalaninemia), microcephaly, hypotonus, intellectual disability and epileptic
Dihydropteridine reductase deficiency
Dihydropteridine_reductase_deficiency
Protein-coding gene in the species Homo sapiens
PMID 1282802. Scriver CR, Clow CL, Kaplan P, Niederwieser A (1987). "Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual
PTS_(gene)
Mammalian protein found in Homo sapiens
biosynthesis. Deficiency in PAH activity due to mutations in PAH causes hyperphenylalaninemia (HPA), and when blood phenylalanine levels increase above 20 times
Phenylalanine_hydroxylase
errors of amino acid metabolism Tyrosinemia II Argininemia Benign hyperphenylalaninemia Defects of biopterin cofactor biosynthesis Defects of biopterin
List of disorders included in newborn screening programs
List_of_disorders_included_in_newborn_screening_programs
Group of lyase enzymes
dehydratase deficiency in the body can lead to a less severe condition of hyperphenylalaninemia, which involves an over presence of phenylalanine in the blood.
Dehydratase
Class of enzymes
phenylalanine, causing elevated levels of Phe in the bloodstream (hyperphenylalaninemia) and intellectual disability if therapy is not begun at birth. In
Phenylalanine_ammonia-lyase
Class of enzymes
of tetrahydrobiopterin. Tetrahydrobiopterin deficiency leads to hyperphenylalaninemia and the inability to make neurotransmitters such as dopamine and
6-Pyruvoyltetrahydropterin synthase
6-Pyruvoyltetrahydropterin_synthase
Mammalian protein found in Homo sapiens
tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia". Am. J. Hum. Genet. 69 (2): 269–277. doi:10.1086/321970. PMC 1235302
Sepiapterin_reductase
233910; GCH1 Hyperphenylalaninemia, BH4-deficient, A; 261640; PTS Hyperphenylalaninemia, BH4-deficient, C; 261630; QDPR Hyperphenylalaninemia, BH4-deficient
List_of_OMIM_disorder_codes
HYPERPHENYLALANINEMIA
HYPERPHENYLALANINEMIA
HYPERPHENYLALANINEMIA
HYPERPHENYLALANINEMIA
HYPERPHENYLALANINEMIA
HYPERPHENYLALANINEMIA
HYPERPHENYLALANINEMIA
HYPERPHENYLALANINEMIA
HYPERPHENYLALANINEMIA