Synonym(s): - 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
Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CPT1A	P50416	600528

- Areflexia / hyporeflexia
- Asthenia / fatigue / weakness
- Autosomal recessive inheritance
- Hepatocellular liver disease / hepatic failure
- Hypoglycemia
- Hypotonia
- Metabolic anomalies
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Obnubilation / coma / lethargia / desorientation

- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Renal tubular defect / tubulopathy