Carnitine Palmitoyltransferase II Deficiency, Infantile [Supplementary Concept]

mutation in Carnitine O-Palmitoyltransferase

MeSH Unique ID: C563462

Heading Mapped to:

• Carnitine O-Palmitoyltransferase/deficiency
• Hypoglycemia
• Lipid Metabolism, Inborn Errors
• Liver Diseases

Entry Terms:

• CPT2 Deficiency, Infantile
• CPT II Deficiency, Hepatic
• Carnitine Palmitoyltransferase II Deficiency, Hepatocardiomuscular
• Carnitine Palmitoyltransferase II Deficiency with Hypoketotic Hypoglycemia