Carnitine-acylcarnitine translocase deficiency

Preferred Label : Carnitine-acylcarnitine translocase deficiency;

Symbol : CACTD;

CISMeF acronym : CACTD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cact deficiency;

Description : Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. However, presentations at a later age with a milder phenotype have been reported (summary by Rubio-Gozalbo et al., 2004).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 gene (CACT, 613698.0001);

Laboratory abnormalities : Low free carnitine; Increased serum creatine kinase; Abnormal liver enzymes; Hyperammonemia; Increased long-chain acylcarnitines; Dicarboxylic aciduria;

Prefixed ID : #212138;

Details

Origin ID

212138;

UMLS CUI

C0342791;

Automatic exact mappings (from CISMeF team)
- Carnitine-acylcarnitine translocase deficiency [MedDRA Preferred Term]
- carnitine-acylcarnitine translocase deficiency [DO Concept]
- carnitine-acylcarnitine translocase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- CACT deficiency [Disease (Nov.)]
- Carnitine acylcarnitine translocase deficiency (disorder) [SNOMED CT concept]
- Carnitine-Acylcarnitine Translocase Deficiency [NCIt concept]
- Carnitine-Acylcarnitine translocase deficiency [MeSH concept]
- Carnitine-Acylcarnitine translocase deficiency [MeSH Supplementary Concept]
- Carnitine-acylcarnitine translocase deficiency [ICD-11 More detail]
- Carnitine-acylcarnitine translocase deficiency [ORDO Disease]
DO Cross reference
- carnitine-acylcarnitine translocase deficiency [DO Concept]
Genes related to phenotype
- Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 [OMIM gene]
HPO term(s)
- Atrioventricular block [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Cardiac arrest [HPO term]
- Cardiomyopathy [HPO term]
- Cardiorespiratory arrest [HPO term]
- Coma [HPO term]
- Dicarboxylic aciduria [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Generalized hypotonia [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hypoglycemia [HPO term]
- Hypotension [HPO term]
- Hypotonia [HPO term]
- Irritability [HPO term]
- Lethargy [HPO term]
- Muscle weakness [HPO term]
- Neonatal hypoglycemia [HPO term]
- Premature ventricular contraction [HPO term]
- Rhabdomyolysis [HPO term]
- Seizure [HPO term]
- Ventricular hypertrophy [HPO term]
- Ventricular hypertrophy on ECG [HPO term]
- Ventricular tachycardia [HPO term]
ORDO concept(s)
- Carnitine-acylcarnitine translocase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CACT deficiency [Disease (Nov.)]
- Carnitine acylcarnitine translocase deficiency (disorder) [SNOMED CT concept]
- Carnitine-Acylcarnitine Translocase Deficiency [NCIt concept]
- Carnitine-Acylcarnitine translocase deficiency [MeSH Supplementary Concept]
- Carnitine-Acylcarnitine translocase deficiency [MeSH concept]
- Carnitine-acylcarnitine translocase deficiency [ORDO Disease]
- Carnitine-acylcarnitine translocase deficiency [ICD-11 More detail]
- Carnitine-acylcarnitine translocase deficiency [MedDRA Preferred Term]
- carnitine-acylcarnitine translocase deficiency [DO Concept]

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