Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

MedGen UID:: 199656
•Concept ID:: C0751436
•: Disease or Syndrome

Synonyms:	BH4 deficiency; Hyperphenylalaninemia caused by a defect in biopterin metabolism; Hyperphenylalaninemia, non-phenylketonuric; Tetrahydrobiopterin deficiency
SNOMED CT:	Tetrahydrobiopterin synthesis defect (68724006); Hyperphenylalaninemia due to BH4 (tetrahydrobiopterin) deficiency (68724006); Deficiency of tetrahydrobiopterin (68724006); Hyperphenylalaninemia due to tetrahydrobiopterin deficiency (68724006)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0016543
Orphanet:	ORPHA238583

Definition

An amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHyperphenylalaninemia due to tetrahydrobiopterin deficiency

Disorder of pterin metabolism
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Follow this link to review classifications for Hyperphenylalaninemia due to tetrahydrobiopterin deficiency in Orphanet.

Professional guidelines

PubMed

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies.

Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD)
Orphanet J Rare Dis 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. PMID: 32456656 Free PMC Article

The complete European guidelines on phenylketonuria: diagnosis and treatment.

van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426 Free PMC Article

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA; American College of Medical Genetics and Genomics Therapeutics Committee
Genet Med 2014 Feb;16(2):188-200. Epub 2013 Oct 10 doi: 10.1038/gim.2013.157. PMID: 24385074

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