3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Synonyms: HMG-CoA synthase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
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 episodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | HMG-CoA synthase deficiency |
| fr | Déficit en 3-hydroxy-3-méthylglutaryl-CoA synthétase | Déficit en HMG-CoA synthétase |
| de | 3-Hydroxy-3-Methylglutaryl-CoA-Synthase-Mangel | |
| es | Deficiencia de 3-hidroxi 3-metilglutaril-CoA (HMG) sintasa | |
| it | Deficit di 3-idrossi-3-metilglutaril-CoA sintetasi | |
| nl | 3-hydroxy-3-methylglutaryl-CoA-synthasedeficiëntie | HMG-CoA-synthasedeficiëntie |
| pt | Deficiência de 3-hidroxi-3-metilglutaril-CoA sintetase | |
| pl | Niedobór syntetazy 3-hydroksy-3-metyloglutarylo-CoA | Niedobór syntetazy HMG-CoA |
| cs | Deficit 3-hydroxy-3-methylglutaryl-CoA syntázy | Deficit HMG-CoA syntázy |
| uk | Дефіцит 3-гідрокси-3-метилглутарил-КоА-синтази | Дефіцит HMG-КоА-синтази |
| zh | 3-羟基-3-甲基戊二酰辅酶A合成酶缺乏症 | HMG-CoA合酶缺乏症 |
| tr | 3-hidroksi-3-metilglutaril-CoA sentaz eksikliği | HMG-CoA sentaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605911 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.02 | NTBT | index | validated |
| MONDO | 0011614 | E | validated | |
| UMLS | C4510940 | E | validated | |
| GARD | 2712 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:309115Disorder of fatty acid oxidation and ketogenesis
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HMGCS2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5008 | ENSG00000134240 | 600234 | 1p12 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | 11479731[PMID]_23751782[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 23751782[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0001943 | Hypoglycemia | |
| HP:0001250 | Seizure | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35701
- This record as JSON: /data/d/35701.json