ORPHA:20
3-hydroxy-3-methylglutaric aciduria
Synonyms: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency · Hydroxymethylglutaric aciduria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-hydroxy-3-methylglutaric aciduria | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency · Hydroxymethylglutaric aciduria |
| fr | Acidurie 3-hydroxy-3-méthylglutarique | Acidurie hydroxyméthylglutarique · Déficit en 3-hydroxy-3-méthylglutaryl-CoA lyase · Déficit en HMG-CoA-lyase |
| de | 3-Hydroxy-3-Methylglutarazidurie | Hydroxymethylglutarazidurie · 3-HMG-CoA-Lyase-Mangel · 3-Hydroxy-3-Methylglutaryl-CoA-Lyase-Mangel |
| es | Aciduria 3-hidroxi-3-metilglutárica | Aciduria hidroxi-metil-glutárica · Deficiencia de 3-hidroxi-3-metilglutaril-CoA liasa · Deficiencia de HMG-CoA liasa |
| it | Aciduria 3-idrossi-3-metilglutarica | Deficit di 3-idrossi-3-metilglutaril-CoA liasi · Deficit di HMG-CoA liasi · Idrossi-metil-glutaricaciduria |
| nl | 3-hydroxy-3-methylglutaaracidurie | 3-hydroxy-3-methylglutaryl-CoA-lyasedeficiëntie · HMG-CoA-lyasedeficiëntie · Hydroxymethylglutaaracidurie |
| pt | Acidúria 3-hidroxi-3-metilglutárica | Acidúria hidroximetilglutárica · Deficiência de 3-hidroxi-3-metilglutaril-CoA liase · Deficiência de HMG-CoA liase |
| pl | Acyduria 3-hydroksy-3-metyloglutarowa | Acyduria hydroksymetylglutarowa · Niedobór liazy 3-hydroksy-3-metyloglutaro-CoA · Niedobór liazy HMG-CoA |
| cs | 3-hydroxy-3-methylglutarová acidurie | Deficit 3-hydroxy-3-methylglutaryl-CoA lyázy · Deficit HMG-COA lyázy · Hydroxymethylglutarová acidurie |
| uk | 3-гідрокси-3-метилглутарова ацидурія | Дефіцит 3-гідрокси-3-метилглутарил-КоА-ліази · Дефіцит HMG-КоА-ліази · Гідроксиметилглутарова ацидурія |
| zh | 3-羟基-3甲基戊二酸尿症 | 3-羟基-3-甲基戊二酸单酰辅酶A裂合酶缺陷 |
| tr | 3-hidroksi-3-metilglutarik asidüri | HMG-CoA liyaz eksikliği · Hidroksimetilglutarik asidüri · 3-hidroksi-3-metilglutaril-CoA liyaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 246450 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009520 | E | validated | |
| MeSH | C538324 | E | validated | |
| UMLS | C0268601 | E | validated | |
| GARD | 8387 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:309115Disorder of fatty acid oxidation and ketogenesis
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HMGCL | Disease-causing germline mutation(s) in | Assessed | HGNC:5005 | ENSG00000117305 | 613898 | 1p36.11 | 3-hydroxy-3-methylglutaryl-CoA lyase | 19177531[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 19177531[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 / 100 000 | Portugal | Value and class | Validated | [EXPERT] |
| Prevalence at birth | <1 / 1 000 000 | — | United States | Class only | Validated | 22766612[PMID] |
| Prevalence at birth | <1 / 1 000 000 | — | China | Class only | Validated | 19036343[PMID]_29039164[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
54 annotations · validated 2019-04-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003344 | 3-Methylglutaric aciduria | |
| HP:0001987 | Hyperammonemia | |
| HP:0001942 | Metabolic acidosis | |
| HP:0001958 | Nonketotic hypoglycemia | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0002039 | Anorexia | |
| HP:0000741 | Apathy | |
| HP:0002353 | EEG abnormality | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002572 | Episodic vomiting | |
| HP:0002240 | Hepatomegaly | |
| HP:0002149 | Hyperuricemia | |
| HP:0001252 | Hypotonia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0001254 | Lethargy | |
| HP:0006561 | Lipid accumulation in hepatocytes | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0001988 | Recurrent hypoglycemia | |
| HP:0006582 | Reye syndrome-like episodes | |
| HP:0001250 | Seizure | |
| HP:0002789 | Tachypnea | |
| Occasional (29-5%) | ||
| HP:0002104 | Apnea | |
| HP:0001259 | Coma | |
| HP:0001944 | Dehydration | |
| HP:0002014 | Diarrhea | |
| HP:0000969 | Edema | |
| HP:0001298 | Encephalopathy | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0001265 | Hyporeflexia | |
| HP:0002615 | Hypotension | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000952 | Jaundice | |
| HP:0002919 | Ketonuria | |
| HP:0001882 | Leukopenia | |
| HP:0001336 | Myoclonus | |
| HP:0000980 | Pallor | |
| HP:0001894 | Thrombocytosis | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0001735 | Acute pancreatitis | |
| HP:0001251 | Ataxia | |
| HP:0001695 | Cardiac arrest | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001260 | Dysarthria | |
| HP:0001325 | Hypoglycemic coma | |
| HP:0002045 | Hypothermia | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0000252 | Microcephaly | |
| HP:0011099 | Spastic hemiparesis | |
| HP:0001257 | Spasticity | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 28583327[PMID]_3958190[PMID]_6489380[PMID]_6156427[PMID]_85928[PMID]_12565045[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/20
- This record as JSON: /data/d/20.json