Carnitine-acylcarnitine translocase deficiency
Synonyms: CACT deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carnitine-acylcarnitine translocase deficiency | CACT deficiency |
| fr | Déficit en carnitine-acylcarnitine translocase | Déficit en CACT |
| de | Carnitin-Acylcarnitin-Translokase-Mangel | CACT-Mangel |
| es | Deficiencia de carnitina-acilcarnitina translocasa | Deficiencia de CACT |
| it | Deficit di carnitina-acilcarnitina traslocasi | Deficit di CACT |
| nl | Deficiëntie van carnitine-acylcarnitine translocase | CACT-deficiëntie |
| pt | Deficiência de carnitina-acilcarnitina translocase | |
| pl | Niedobór translokazy karnityno-acylokarnitynowej | Niedobór CACT |
| cs | Deficit karnitinacylkarnitintranslokázy | CACT deficit |
| uk | Дефіцит карнітин-ацилкарнітинової транслокази | Дефіцит CACT |
| zh | 肉毒碱-酰肉碱移位酶缺乏症 | CACT缺乏症 |
| tr | Karnitin-açilkarnitin translokaz eksikliği | CACT eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212138 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.00 | NTBT | index | validated |
| MONDO | 0008918 | E | validated | |
| MeSH | C562812 | E | validated | |
| UMLS | C0342791 | E | validated | |
| GARD | 1123 | E | validated | |
| MedDRA | 10078729 | 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 (3):
- ORPHA:309130Disorder of carnitine cycle and carnitine transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217591Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC25A20 | Disease-causing germline mutation(s) in | Assessed | HGNC:1421 | ENSG00000178537 | 613698 | 3p21.31 | solute carrier family 25 member 20 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 24088670[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
30 annotations · validated 2017-08-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0003234 | Decreased circulating carnitine concentration | |
| HP:0003215 | Dicarboxylic aciduria | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0008331 | Elevated creatine kinase after exercise | |
| HP:0045045 | Elevated plasma acylcarnitine levels | |
| HP:0001298 | Encephalopathy | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0001263 | Global developmental delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0001987 | Hyperammonemia | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0002615 | Hypotension | |
| HP:0000737 | Irritability | |
| HP:0001254 | Lethargy | |
| HP:0001324 | Muscle weakness | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0004756 | Ventricular tachycardia | |
| Occasional (29-5%) | ||
| HP:0001259 | Coma | |
| HP:0000961 | Cyanosis | |
| HP:0001399 | Hepatic failure | |
| HP:0002045 | Hypothermia | |
| HP:0000252 | Microcephaly | |
| HP:0000639 | Nystagmus | |
| HP:0100520 | Oliguria | |
| HP:0100602 | Preeclampsia | |
| HP:0001250 | Seizure | |
| HP:0002882 | Sudden episodic apnea | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 7350426[PMID]_1598097[PMID]_8450053[PMID]_10577999[PMID]_17578469[PMID]_24088670[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/159
- This record as JSON: /data/d/159.json