ORPHA:156
Carnitine palmitoyl transferase 1A deficiency
Synonyms: CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency · Hepatic carnitine palmitoyl transferase 1 deficiency · Hepatic carnitine palmitoyl transferase I deficiency · L-CPT1 deficiency · L-CPTI deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carnitine palmitoyl transferase 1A deficiency | CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency · Hepatic carnitine palmitoyl transferase 1 deficiency · Hepatic carnitine palmitoyl transferase I deficiency · L-CPT1 deficiency · L-CPTI deficiency |
| fr | Déficit en carnitine palmitoyltransférase 1A | Déficit en CPT-1A · Déficit en L-CPT1 · Déficit en L-CPTI · Déficit en carnitine palmitoyltransférase 1 hépatique · Déficit en carnitine palmitoyltransférase I hépatique · Déficit en carnitine palmitoyltransférase IA |
| de | Carnitin-Palmitoyl-Transferase IA-Mangel | CPT IA-Mangel · CPT-1A-Mangel · Carnitin-Palmitoyl-Transferase I-Mangel, hepatischer · L-CPT1-Mangel |
| es | Deficiencia de carnitina palmitoiltransferasa 1A | Deficiencia de CPT-1A · Deficiencia de L-CPT1 · Deficiencia de L-CPTI · Deficiencia de carnitina palmitoiltransferasa 1 hepática · Deficiencia de carnitina palmitoiltransferasa I hepática · Deficiencia de carnitina palmitoiltransferasa IA |
| it | Deficit di carnitina-palmitoil transferasi 1A | Deficit di CPT-1A · Deficit di L-CPT1 · Deficit di L-CPTI · Deficit di carnitina-palmitoil transferasi IA · Deficit epatico di carnitina-palmitoil transferasi 1 · Deficit epatico di carnitina-palmitoil transferasi I |
| nl | Carnitinepalmitoyltransferase 1A-deficiëntie | CPT1A-deficiëntie · Carnitinepalmitoyltransferase IA-deficiëntie · Hepatische carnitinepalmitoyltransferase 1-deficiëntie · Hepatische carnitinepalmitoyltransferase I-deficiëntie · L-CPT1-deficiëntie · L-CPTI-deficiëntie |
| pt | Deficiência de carnitina palmitoiltransferase 1A | |
| pl | Niedobór palmitylotransferazy 1A karnityny | Niedobór CPT1A · Niedobór L-CPT1 · Niedobór L-CPTI · Niedobór palmitylotransferazy 1 karnityny wątrobowej · Niedobór palmitylotransferazy I karnityny wątrobowej · Niedobór palmitylotransferazy IA karnityny |
| cs | Deficit karnitinpalmitoyltransferázy 1 A | Deficit CPT1A · Deficit karnitinpalmitoyltransferázy I A · Deficit jaterní karnitinpalmitoyltransferázy 1 · Deficit jaterní karnitinpalmitoyltransferázy I · Deficit L-CPT1 · Deficit L-CPTI |
| uk | Дефіцит карнітин пальмітоїлтрансферази 1А | Дефіцит карнітинпальмітозилтрансферази IA · Дефіцит CPT1A · Дефіцит печінкової карнітинпальмітоілтрансферази 1 · Дефіцит печінкової карнітинпальмітоілтрансферази I · Дефіцит L-CPT1 · Дефіцит L-CPTI |
| zh | 肉毒碱棕榈酰转移酶IA缺乏症 | 肝肉毒碱棕榈酰转移酶I缺乏 |
| tr | Karnitin palmitoil transferaz 1A eksikliği | CPT1A eksikliği · L-CPT1 eksikliği · L-CPTI eksikliği · Karnitin palmitoil transferaz IA eksikliği · Hepatik karnitin palmitoil transferaz 1 eksikliği · Hepatik karnitin palmitoil transferaz I eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255120 | E | validated | |
| ICD-10 | E71.3 | NTBT | inclusion | validated |
| ICD-11 | 5C52.00 | NTBT | index | validated |
| MONDO | 0009705 | E | validated | |
| MeSH | C535588 | E | validated | |
| UMLS | C1829703 | E | validated | |
| GARD | 1120 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:309130Disorder of carnitine cycle and carnitine transport
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 |
|---|---|---|---|---|---|---|---|---|
| CPT1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2328 | ENSG00000110090 | 600528 | 11q13.3 | carnitine palmitoyltransferase 1A | 20301700[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 20301700[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301700[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Specific population | Value and class | Validated | 33239050[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.
6
HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000708 | Atypical behavior | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0012378 | Fatigue | |
| HP:0001399 | Hepatic failure | |
| HP:0001943 | Hypoglycemia | |
| HP:0001252 | Hypotonia | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0001250 | Seizure | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0001259 | Coma | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0002240 | Hepatomegaly | |
| HP:0001254 | Lethargy | |
| HP:0007185 | Loss of consciousness | |
| HP:0008279 | Transient hyperlipidemia | |
| Occasional (29-5%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0001645 | Sudden cardiac death | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/156
- This record as JSON: /data/d/156.json