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GENATLAS PHENOTYPE
last update : 5/07/2006
Symbol CPT1A
Location 11q13.2
Name carnitine palmitoyltransferase deficiency I A
Corresponding gene CPT1A
related resource MITOP database
Main clinical features
  • non ketotic hypoglycemia, infant form, hepatomegaly, mild hyperammonemia Reye-like syndrome, sudden infant death syndrome, with elevation of free and short -chain acylcarnitine, and low levels of long-chain acyl carnitine
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease
    Remark(s)