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Carnitine Palmitoyltransferase II Deficiency, Infantile MeSH Supplementary Concept Data 2024


MeSH Supplementary
Carnitine Palmitoyltransferase II Deficiency, Infantile
Unique ID
C563462
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C563462
Entry Term(s)
CPT II Deficiency, Hepatic
CPT2 Deficiency, Infantile
Carnitine Palmitoyltransferase II Deficiency with Hypoketotic Hypoglycemia
Carnitine Palmitoyltransferase II Deficiency, Hepatocardiomuscular
Registry Number
0
Heading Mapped to
Carnitine O-Palmitoyltransferase / *deficiency
*Hypoglycemia
*Lipid Metabolism, Inborn Errors
*Liver Diseases
Frequency
1
Note
mutation in Carnitine O-Palmitoyltransferase
Date of Entry
2012/11/05
Revision Date
2013/11/06
Carnitine Palmitoyltransferase II Deficiency, Infantile Preferred
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