Details of Disease

General Information of Disease (ID: DISCN42J)

• Disease Name: Carnitine palmitoyl transferase II deficiency, severe infantile form
• Synonyms: Carnitine Palmitoyltransferase 2 deficiency, infantile; CPT 2 deficiency, hepatic; Cpt2 deficiency, infantile; Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular; CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile; Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; carnitine palmitoyl transferase II deficiency, severe infantile form; CPT2, hepatocardiomuscular form; CPTII, hepatocardiomuscular form; CPT II deficiency, infantile; CPTII, severe infantile form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form
• Definition: The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
• Disease Hierarchy:
  DIS3GFD9: Carnitine palmitoyltransferase II deficiency
  DISCN42J: Carnitine palmitoyl transferase II deficiency, severe infantile form
• Disease Identifiers:
  MONDO ID: MONDO_0010914
  MESH ID: C563462
  UMLS CUI: C1833511
  OMIM ID: 600649
  MedGen ID: 322211
  Orphanet ID: 228305

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CPT2	OTIN6G20	Strong	Autosomal recessive	[1]

References

• [1] PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.