Details of Disease | DrugMAP

General Information of Disease (ID: DISIYS04)

Disease Name	Carnitine palmitoyl transferase 1A deficiency
Synonyms	Carnitine Palmitoyltransferase 1A deficiency; Carnitine Palmitoyltransferase 1 deficiency; L-CPT 1 deficiency; hepatic carnitine palmitoyltransferase 1 deficiency; Carnitine palmitoyltransferase 1A deficiency; Carnitine palmitoyl transferase 1 deficiency; CPT deficiency, hepatic, type 1; hepatic CPT1; CPT 1 deficiency; CPT1A deficiency; cpt deficiency, hepatic, type IA; disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A; carnitine palmitoyl transferase 1A deficiency; Carnitine Palmitoyltransferase 1A Deficiency; L-CPTI deficiency; carnitine palmitoyl transferase IA deficiency; CPT1A disorder of carnitine cycle and carnitine transport; hepatic CPT deficiency type I; hepatic carnitine palmitoyl transferase 1 deficiency; carnitine palmitoyltransferase I deficiency; L-CPT1 deficiency; hepatic carnitine palmitoyl transferase I deficiency; CPT I deficiency; Carnitine palmitoyl transferase IA deficiency
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.\|Editor note: consider adding sibling for CPT-1B
Disease Hierarchy	DISOT51Y: Inherited fatty acid metabolism disorder DISXOOWI: Disorder of carnitine cycle and carnitine transport DISIYS04: Carnitine palmitoyl transferase 1A deficiency
Disease Identifiers	MONDO ID MONDO_0009705 MESH ID C535588 UMLS CUI C1829703 OMIM ID 255120 MedGen ID 316820 Orphanet ID 156 SNOMED CT ID 238001003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CPT1A	OTI862QH	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.