Details of Disease | DrugMAP

General Information of Disease (ID: DISR2O7P)

Disease Name	Carnitine-acylcarnitine translocase deficiency
Synonyms	Cact deficiency; CACTD; CARNITINE-acylcarnitine translocase deficiency; CACT deficiency; carnitine-acylcarnitine translocase deficiency
Definition	Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
Disease Hierarchy	DISXOOWI: Disorder of carnitine cycle and carnitine transport DISA6JBV: Disorder of fatty acid oxidation and ketogenesis DISR2O7P: Carnitine-acylcarnitine translocase deficiency
Disease Identifiers	MONDO ID MONDO_0008918 MESH ID C562812 UMLS CUI C0342791 OMIM ID 212138 MedGen ID 91000 Orphanet ID 159 SNOMED CT ID 238003000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IDS	TTNY2AP	Definitive	Biomarker	[1]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A20	DTQOUM4	Definitive	Autosomal recessive	[2]
SLC25A20	DTQOUM4	Definitive	Genetic Variation	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HADHA	OTO557N2	Strong	Biomarker	[4]
SLC25A20	OT6CLFXB	Definitive	Autosomal recessive	[2]
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References

1	Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.Eur J Pediatr. 2000 Jan-Feb;159(1-2):82-5. doi: 10.1007/pl00013810.
2	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.
3	Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China.Clin Chim Acta. 2019 Aug;495:476-480. doi: 10.1016/j.cca.2019.05.018. Epub 2019 May 17.
4	Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.Mol Genet Metab. 2006 Jan;87(1):40-7. doi: 10.1016/j.ymgme.2005.09.018. Epub 2005 Nov 16.