3-hydroxy-3-methylglutaryl-CoA synthase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HMGCS2 DEFICIENCY
HMG-CoA synthase deficiency
MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
Number of Symptoms 5
OrphanetNr: 35701
OMIM Id: 605911
ICD-10: E71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 9 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of ketone body metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0001992) Organic aciduria Very frequent [Orphanet] 28 / 7739
2
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
3
(HPO:0006568) Increased hepatic glycogen content Very frequent [Orphanet] 34 / 7739
4
(HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
5
(HPO:0001943) Hypoglycemia Very frequent [Orphanet] 131 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mitochondrial HMG-CoA synthase deficiency is an inherited metabolic disorder caused by a defect in the enzyme that regulates the formation of ketone bodies. Patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or ...
Clinical Description OMIM Thompson et al. (1997) described an 11-year-old boy, born of nonconsanguineous Chinese parents, with deficiency of mitochondrial HMG-CoA synthase. The boy first presented at 6 years of age after mild gastroenteritis with poor oral intake for 2 to ...
Molecular genetics OMIM In the patient with mitochondrial HMG-CoA synthase deficiency reported by Thompson et al. (1997), Bouchard et al. (2001) identified homozygosity for a phe174-to-leu (F174L; 600234.0001) mutation in exon 2 of the HMGCS2 gene. In another patient with deficiency ...