Details of Disease | DrugMAP

General Information of Disease (ID: DISIIU6G)

Disease Name	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Synonyms	mitochondrial HMG-Coa synthase deficiency; Hmgcs2 deficiency; HMGCS2D; HMG CoA synthetase deficiency; 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency; HMG-CoA synthase deficiency; HMG-CoA synthase-2 deficiency; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Definition	3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.
Disease Hierarchy	DISA6JBV: Disorder of fatty acid oxidation and ketogenesis DISIIU6G: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Disease Identifiers	MONDO ID MONDO_0011614 MESH ID C567784 UMLS CUI C2751532 OMIM ID 605911 MedGen ID 414399 Orphanet ID 35701

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HMGCS2	TTS0EZJ	Definitive	Autosomal recessive	[1]
HMGCS2	TTS0EZJ	Definitive	Biomarker	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Limited	Genetic Variation	[3]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADSB	OTDO6HBG	Limited	Biomarker	[3]
AUH	OT8VKBXX	Limited	Biomarker	[3]
HMGCS2	OTC3RUN9	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.
2	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
3	Genotype-based databases for variants causing rare diseases.Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.