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GTR Home > Conditions/Phenotypes > Carnitine palmitoyl transferase 1A deficiency

Carnitine palmitoyl transferase 1A deficiency

Synonyms
CPT DEFICIENCY, HEPATIC, TYPE I; CPT I DEFICIENCY; CPT deficiency, hepatic, type IA; CPT1A deficiency; Carnitine Palmitoyltransferase IA Deficiency; Carnitine palmitoyl transferase 1 deficiency; Carnitine palmitoyltransferase 1A deficiency; Carnitine palmitoyltransferase type I deficiency; Hepatic CPT1; Hepatic carnitine palmitoyltransferase 1 deficiency; L-CPT 1 deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Carnitine Palmitoyltransferase 1A Deficiency
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of long-chain fatty acid oxidation. Clinical manifestations usually occur in an individual with a concurrent febrile or gastrointestinal illness when energy demands are increased; onset of symptoms is usually rapid. The recognized phenotypes are: acute fatty liver of pregnancy, in which the fetus has biallelic pathogenic variants in CPT1A that causes CPT1A deficiency; and hepatic encephalopathy, in which individuals (typically children) present with hypoketotic hypoglycemia and sudden onset of liver failure. Individuals with hepatic encephalopathy typically present with hypoglycemia, absent or low levels of ketones, and elevated serum concentrations of liver transaminases, ammonia, and total carnitine. Between episodes of hepatic encephalopathy, individuals appear developmentally and cognitively normal unless previous metabolic decompensation has resulted in neurologic damage.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Michael J Bennett
Avni B Santani
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Available tests

96 tests are in the database for this condition.

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Clinical tests (96 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPT1, CPT1-L, L-CPT1, CPT1A
    Summary: carnitine palmitoyltransferase 1A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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