carnitine palmitoyl transferase 1A deficiency
Findings
No curated finding names carnitine palmitoyl transferase 1A deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009705), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Elevated urinary dicarboxylic acid levelHPOHP:0003215
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Show the remaining 20
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Very frequent (80% to 99% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CPT1AHGNC:2328
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
11 names
Resolves to: carnitine palmitoyl transferase 1A deficiency
- Also called
- Carnitine palmitoyl transferase IA deficiencyCarnitine Palmitoyltransferase 1A Deficiencycarnitine palmitoyltransferase I deficiencycpt deficiency, hepatic, type IACPT1A deficiencyCPT1A disorder of carnitine cycle and carnitine transportdisorder of carnitine cycle and carnitine transport caused by mutation in CPT1Ahepatic carnitine palmitoyl transferase 1 deficiencyhepatic carnitine palmitoyl transferase I deficiencyL-CPT1 deficiencyL-CPTI deficiency