Hyperphenylalaninemia, bh4-deficient, a

Preferred Label : Hyperphenylalaninemia, bh4-deficient, a;

Symbol : HPABH4A;

CISMeF acronym : HPABH4A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency; Pts deficiency; PTSD; PTPSD;

Included titles and symbols : Hyperphenylalaninemia, bh4-deficient, due to partial pts deficiency;

Description : Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH; 612349), tyrosine hydroxylase (TH; 191290) and tryptophan hydroxylase (TPH1; 191060), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 6-@pyruvoyl-tetrahydropterin synthase gene PTS, (612719.0001);

Laboratory abnormalities : Hyperphenylalaninemia; Decreased homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) in CSF; Increased neopterin in urine and CSF; Decreased or absent PTS activity;

Prefixed ID : #261640;

Details

Origin ID

261640;

UMLS CUI

C0878676;

Automatic exact mappings (from CISMeF team)
- 6-pyruvoyltetrahydropterin synthase [ORDO Gene]
- Post-Traumatic Stress Disorder [NCIt concept]
- hyperphenylalaninemia, BH4-Deficient, due to partial PTS deficiency [MeSH concept]
- hyperphenylalaninemia, BH4-Deficient, due to partial PTS deficiency [MeSH Supplementary Concept]
- stress disorders, post-traumatic [MeSH Descriptor]
Currated CISMeF NLP mapping
- 6 pyruvoyl tetrahydropterin synthase deficiency [Disease (Nov.)]
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) [SNOMED CT concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ICD-11 More detail]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH Supplementary Concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ORDO Disease]
- BH4-deficient hyperphenylalaninemia A [DO Concept]
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
- Hyperphenylalaninemia, BH4-deficient A [NCIt concept]
DO Cross reference
- BH4-deficient hyperphenylalaninemia A [DO Concept]
Genes related to phenotype
- 6-pyruvoyl-tetrahydropterin synthase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Choreoathetosis [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Excessive daytime somnolence [HPO term]
- Excessive salivation [HPO term]
- Global developmental delay [HPO term]
- Hyperphenylalaninemia [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Irritability [HPO term]
- Microcephaly [HPO term]
- Parkinsonism [HPO term]
- Poor suck [HPO term]
- Progressive neurologic deterioration [HPO term]
- Psychomotor retardation [HPO term]
- Recurrent fever [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Small for gestational age [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ORDO Disease]
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 6 pyruvoyl tetrahydropterin synthase deficiency [Disease (Nov.)]
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) [SNOMED CT concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ORDO Disease]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH Supplementary Concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ICD-11 More detail]
- BH4-deficient hyperphenylalaninemia A [DO Concept]
- Hyperphenylalaninemia, BH4-deficient A [NCIt concept]
Validated automatic mappings to NTBT
- Malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency [ICD-11 More detail]

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