Details of Disease | DrugMAP

General Information of Disease (ID: DISY6SW9)

Disease Name	Holocarboxylase synthetase deficiency
Synonyms	multiple carboxylase deficiency, neonatal form; HLCS deficiency; multiple carboxylase deficiency, early onset; multiple carboxylase deficiency; early-onset multiple carboxylase deficiency; holocarboxylase synthetase deficiency; neonatal multiple carboxylase deficiency; holocarboxylase synthase deficiency; biotin-(propionyl-CoA-carboxylase) ligase deficiency; multiple carboxylase deficiency - neonatal onset
Definition	A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.\|May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200
Disease Hierarchy	DISOEVKS: Metabolic epilepsy DISD715V: Hereditary neurological disease DISV3SZX: Multiple carboxylase deficiency DISOGOR1: Inborn disorder of branched-chain amino acid metabolism DISY6SW9: Holocarboxylase synthetase deficiency
Disease Identifiers	MONDO ID MONDO_0009666 MESH ID D028922 UMLS CUI C0268581 OMIM ID 253270 MedGen ID 120653 Orphanet ID 79242 SNOMED CT ID 360369003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BTD	OTJYTQ69	Strong	Biomarker	[1]
HLCS	OTPDUX30	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.Mitochondrion. 2019 Jan;44:58-64. doi: 10.1016/j.mito.2018.01.001. Epub 2018 Jan 4.
2	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.