Details of Disease

Disease Name

Carnitine palmitoyltransferase II deficiency

Carnitine palmitoyltransferase 2 deficiency; Carnitine palmitoyltransferase II (CPT II) deficiency; CPT-II; lethal neonatal carnitine palmitoyltransferase II deficiency; CPT2; carnitine palmitoyltransferase II deficiency; Carnitine palmitoyltransferase deficiency type 2; late-onset carnitine palmitoyltransferase II deficiency; CPTII; CPT II deficiency; infantile carnitine palmitoyltransferase II deficiency

Definition

Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.

Disease Hierarchy

DISXOOWI: Disorder of carnitine cycle and carnitine transport

DIS3GFD9: Carnitine palmitoyltransferase II deficiency

Disease Identifiers

MONDO ID

MONDO_0015515

MESH ID

C535589

UMLS CUI

C0342790

MedGen ID

137978

Orphanet ID

157

SNOMED CT ID

238002005

General Information of Disease (ID: DIS3GFD9)

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
CS	TTZA6B3	Strong	Altered Expression	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A20	DTQOUM4	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHPT1	OT4FJ0K3	Strong	Altered Expression	[3]
DHDDS	OTVLYBUS	Strong	Altered Expression	[3]
EHHADH	OTBAAHL5	Strong	Genetic Variation	[4]
ETFDH	OTOSKSFH	Strong	Genetic Variation	[5]
GBE1	OTK2N05B	Strong	Biomarker	[4]
HADHA	OTO557N2	Strong	Biomarker	[6]
CPT2	OTIN6G20	Definitive	Autosomal recessive	[7]
------------------------------------------------------------------------------------


⏷ Show the Full List of 7 DOT(s)

References

1	Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency.Int J Mol Sci. 2019 Mar 20;20(6):1400. doi: 10.3390/ijms20061400.
2	A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.Mol Genet Metab. 2006 Dec;89(4):332-8. doi: 10.1016/j.ymgme.2006.06.009. Epub 2006 Aug 17.
3	Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency.J Neurol Sci. 2014 Apr 15;339(1-2):183-8. doi: 10.1016/j.jns.2014.02.011. Epub 2014 Feb 20.
4	Neonatal metabolic myopathies.Semin Perinatol. 1999 Apr;23(2):125-51. doi: 10.1016/s0146-0005(99)80046-9.
5	Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.Pediatr Nephrol. 2017 May;32(5):791-800. doi: 10.1007/s00467-016-3556-5. Epub 2017 Jan 12.
6	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.
7	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.