Details of Disease | DrugMAP

General Information of Disease (ID: DISFHBBV)

Disease Name	Biotinidase deficiency
Synonyms	multiple carboxylase deficiency, juvenile-onset; biotin deficiency; multiple carboxylase deficiency, late-onset; late-onset biotin-responsive multiple carboxylase deficiency; late-onset multiple carboxylase deficiency; deficiency of biotinidase; juvenile-onset multiple carboxylase deficiency; biotinidase deficiency; BTD deficiency
Definition	Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
Disease Hierarchy	DISOEVKS: Metabolic epilepsy DISSYRHC: Hereditary peripheral neuropathy DISO5FAY: Inborn error of metabolism DISV3SZX: Multiple carboxylase deficiency DISFHBBV: Biotinidase deficiency
Disease Identifiers	MONDO ID MONDO_0009665 MESH ID D028921 UMLS CUI C0220754 OMIM ID 253260 MedGen ID 66323 Orphanet ID 79241 SNOMED CT ID 8808004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHML	OTW3VW8D	moderate	Genetic Variation	[1]
HLCS	OTPDUX30	moderate	Altered Expression	[2]
ACY1	OT9WU7X3	Strong	Biomarker	[3]
BTD	OTJYTQ69	Definitive	Autosomal recessive	[4]
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References

1	Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84].Mol Genet Metab Rep. 2016 Apr 12;11:95. doi: 10.1016/j.ymgmr.2016.04.001. eCollection 2017 Jun.
2	Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.J Biol Chem. 2008 Dec 5;283(49):34150-8. doi: 10.1074/jbc.M806985200. Epub 2008 Oct 9.
3	Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet. 2006 Mar;78(3):401-9. doi: 10.1086/500563. Epub 2006 Jan 18.
4	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.