Details of Disease | DrugMAP

General Information of Disease (ID: DISEK2IH)

Disease Name	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Synonyms	pterin-4 alpha-carbinolamine dehydratase deficiency; hyperphenylalaninemia, BH4-deficient, D; tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency; HPABH4D; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency; dehydratase deficiency; PCD deficiency; hyperphenylalaninemia due to dehydratase deficiency; CADH deficiency; hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency; pterin-4 alpha-carbinolamine dehydratase 1 deficiency; PCBD1 deficiency; PCBD deficiency; hyperphenylalaninemia, Bh4-deficient, type D; hyperphenylalaninemia with primapterinuria
Definition	Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.\|This was previously labeled dehydratase deficiency, but based on expert recommendations, the label "dehydratase deficiency" is inappropriate for this entity as it is not unique. PCBD1 encodes a dehydratase, however, the previous label could cause confusion over which dehydratase is deficient in the proband.
Disease Hierarchy	DISCQU4G: Hyperphenylalaninemia DISEK2IH: Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Disease Identifiers	MONDO ID MONDO_0009908 MESH ID C538382 UMLS CUI C1849700 OMIM ID 264070 MedGen ID 337890 Orphanet ID 1578

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PCBD1	OTDSRUD5	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.