Carnitine palmitoyltransferase I deficiency

Preferred Label : Carnitine palmitoyltransferase I deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cpt I deficiency; Carnitine palmitoyltransferase ia deficiency; Cpt deficiency, hepatic, type I;

Description : CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981);

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carnitine palmitoyltransferase IA gene (CPT1A, 600528.0001);

Laboratory abnormalities : Mild to moderate hyperammonemia; Transient hyperlipidemia; Elevated creatine kinase; Elevated transaminases; No dicarboxylic aciduria; No ketonuria; Normal to elevated total plasma carnitine; Elevated free carnitine; Decreased CPT1 activity; Carnitine palmitoyltransferase I deficiency (fibroblast, liver, leukocytes); Decreased long-chain fatty acid oxidation;

Prefixed ID : #255120;

Details

Origin ID

255120;

UMLS CUI

C1829703;

Automatic exact mappings (from CISMeF team)
- Carnitine O-palmitoyltransferase deficiency [PASCAL descriptor]
- carnitine palmitoyl transferase 2 deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Carnitine Palmitoyltransferase I Deficiency [NCIt concept]
- Carnitine palmitoyl transferase 1A deficiency [ORDO Disease]
- Carnitine palmitoyl transferase 1A deficiency [MeSH concept]
- Carnitine palmitoyltransferase 1 deficiency [LOINC component]
- Carnitine palmitoyltransferase I deficiency [ICD-11 More detail]
- Carnitine palmitoyltransferase I deficiency (disorder) [SNOMED CT concept]
- carnitine palmitoyl transferase 1A deficiency [MeSH Supplementary Concept]
- carnitine palmitoyltransferase 1 deficiency [Disease (Nov.)]
- carnitine palmitoyltransferase I deficiency [DO Concept]
DO Cross reference
- carnitine palmitoyltransferase I deficiency [DO Concept]
Genes related to phenotype
- Carnitine palmitoyltransferase I, liver [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Arrhythmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Coma [HPO term]
- Diarrhea [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hypoketotic hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Lethargy [HPO term]
- Prenatal maternal abnormality [HPO term]
- Recurrent encephalopathy [HPO term]
- Renal tubular acidosis [HPO term]
- Seizure [HPO term]
- Transient hyperlipidemia [HPO term]
Not associated HPO term(s)
- Dicarboxylic aciduria [HPO term]
- Ketonuria [HPO term]
- Muscle weakness [HPO term]
ORDO concept(s)
- Carnitine palmitoyl transferase 1A deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine Palmitoyltransferase I Deficiency [NCIt concept]
- Carnitine palmitoyl transferase 1A deficiency [MeSH concept]
- Carnitine palmitoyl transferase 1A deficiency [ORDO Disease]
- Carnitine palmitoyltransferase 1 deficiency [LOINC component]
- Carnitine palmitoyltransferase I deficiency [ICD-11 More detail]
- Carnitine palmitoyltransferase I deficiency (disorder) [SNOMED CT concept]
- carnitine palmitoyl transferase 1A deficiency [MeSH Supplementary Concept]
- carnitine palmitoyltransferase 1 deficiency [Disease (Nov.)]
- carnitine palmitoyltransferase I deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients