ORPHA:134
Beta-ketothiolase deficiency
Synonyms: 3-ketothiolase deficiency · 3-oxothiolase deficiency · Alpha methylacetoacetic aciduria · Alpha-methyl-acetoacetyl-CoA thiolase deficiency · Mitochondrial acetoacetyl-coenzyme A thiolase deficiency · T2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beta-ketothiolase deficiency | 3-ketothiolase deficiency · 3-oxothiolase deficiency · Alpha methylacetoacetic aciduria · Alpha-methyl-acetoacetyl-CoA thiolase deficiency · Mitochondrial acetoacetyl-coenzyme A thiolase deficiency · T2 deficiency |
| fr | Déficit en bêta-cétothiolase | Carence en bêta-cétothiolase · Déficit en 3-cétothiolase · Déficit en T2 · Déficit en alpha-méthyl-acétoacétyl-CoA thiolase |
| de | Beta-Ketothiolase-Mangel | 3-Ketothiolase-Mangel · 3-Oxo-Thiolase-Mangel · Alpha-Methyl-Acetessigsäure-Azidurie · Alpha-Methyl-Acetoacetyl-CoA Thiolase-Mangel · Mitochondrialer Acetoacetyl-Coenzym A-Thiolase-Mangel · T2-Mangel |
| es | Deficiencia de beta-cetotiolasa | Aciduria alfa metil-acetoacética · Deficiencia T2 · Deficiencia de 3-cetotiolasa · Deficiencia de 3-oxatiolano · Deficiencia de acetoacetil-coenzima A tiolasa mitocondrial · Deficiencia de alfa-metil-acetoacetil-CoA tiolasa |
| it | Deficit di beta-chetotiolasi | Aciduria alfa-metilacetoacetica · Deficit di 3-chetotiolasi · Deficit di 3-ossotiolasi · Deficit di T2 · Deficit di alfa-metil-acetoacetil-CoA tiolasi · Deficit mitocondriale di acetoacetil-Coenzima A tiolasi |
| nl | Bèta-ketothiolasedeficiëntie | Alfa-methyl-acetoacetyl-CoA-thiolasedeficiëntie · Alfa-methylacetoacetaatacidurie · Mitochondriaal acetoacetyl-co-enzym A-thiolasedeficiëntie · T2-deficiëntie · 3-ketothiolasedeficiëntie · 3-oxothiolasedeficiëntie |
| pt | Deficiência de beta-cetotiolase | Deficiência de MAT · Deficiência de alfa-2-metil-acetoacetil-CoA tiolase |
| pl | Niedobór beta ketotiolazy | Kwasica alfa metyloacetooctowa · Niedobór 3-ketotiolazy · Niedobór 3-oksotiolazy · Niedobór mitochondrialnej tiolazy acetoacetylo-koenzymu A · Niedobór T2 · Niedobór tiolazy alfa-metylo-acetoacetylo-CoA |
| cs | Deficit beta-ketothiolázy | Deficit 3-ketothiolázy · Deficit 3-oxothiolázy · Alfa-methyl acetoacetátová acidurie · Deficit alfa-methylacetoacetyl-CoA-thiolázy · Deficit mitochondriální acetoacetyl-CoA-thiolázy · Deficit T2 |
| uk | Дефіцит бета-кетотіолази | Дефіцит 3-кетотіолази · Дефіцит 3-окситіолази · Альфа-метилацетоуксусная ацидурія · Дефіцит альфа-метил-ацетоацетил-КоА тіолази · Дефіцит мітохондріальної ацетоацетил-коензиму А тіолази · Дефіцит Т2 |
| zh | β-酮硫解酶缺乏 | 线粒体乙酰乙酰基-辅酶A硫解酶缺乏 |
| tr | Beta-ketotiolaz eksikliği | T2 eksikliği · 3-oksotiyolaz eksikliği · 3-ketotiyolaz eksikliği · Alfa metilasetoasetik asidüri · Alfa-metil-asetoasetil-KoA tiyolaz eksikliği · Mitokondriyal asetoasetil-koenzim A tiyolaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203750 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.DY | NTBT | index | validated |
| MONDO | 0008760 | E | validated | |
| MeSH | C535434 | E | validated | |
| UMLS | C1536500 | E | validated | |
| GARD | 872 | E | validated | |
| MedDRA | 10067728 | 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 (3):
- ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79183Disorder of ketolysis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACAT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:93 | ENSG00000075239 | 607809 | 11q22.3 | acetyl-CoA acetyltransferase 1 | 23430882[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.72 / 100 000 | Australia | Value and class | Validated | 10626578[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.43 / 100 000 | United States | Value and class | Validated | 21669895[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.98 / 100 000 | China | Value and class | Validated | 31156707[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.53 / 100 000 | Viet Nam | Value and class | Validated | 28220263[PMID]_[EXPERT] |
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
42 annotations · validated 2019-05-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011446 | Abnormality of higher mental function | |
| HP:0001941 | Acidosis | |
| HP:0001945 | Fever | |
| HP:0002149 | Hyperuricemia | |
| HP:0002919 | Ketonuria | |
| HP:0001942 | Metabolic acidosis | |
| HP:0002789 | Tachypnea | |
| HP:0002013 | Vomiting | |
| Frequent (79-30%) | ||
| HP:0000741 | Apathy | |
| HP:0001259 | Coma | |
| HP:0012735 | Cough | |
| HP:0001944 | Dehydration | |
| HP:0002014 | Diarrhea | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0001987 | Hyperammonemia | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0001993 | Ketoacidosis | |
| HP:0004372 | Reduced consciousness | |
| HP:0001894 | Thrombocytosis | |
| Occasional (29-5%) | ||
| HP:0012705 | Abnormal metabolic brain imaging by MRS | |
| HP:0000713 | Agitation | |
| HP:0002039 | Anorexia | |
| HP:0001251 | Ataxia | |
| HP:0500001 | Body odor | |
| HP:0000969 | Edema | |
| HP:0007308 | Extrapyramidal dyskinesia | |
| HP:0002240 | Hepatomegaly | |
| HP:0003074 | Hyperglycemia | |
| HP:0000822 | Hypertension | |
| HP:0001943 | Hypoglycemia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002615 | Hypotension | |
| HP:0001252 | Hypotonia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0001270 | Motor delay | |
| HP:0012523 | Oral aversion | |
| HP:0000980 | Pallor | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0001256 | Intellectual disability, mild | |
| HP:0010864 | Intellectual disability, severe | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 28689740[PMID]_28220263[PMID]_9700610[PMID]_4812006[PMID]_4143539[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/134
- This record as JSON: /data/d/134.json