carnitine palmitoyltransferase I deficiency

A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessiv

A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13.

Signs and symptoms

• Lethargy
• Hypotonia
• Hepatomegaly
• Motor delay
• Elevated circulating alanine aminotransferase concentration
• Hypoketotic hypoglycemia
• Diarrhea
• Hyporeflexia
• Elevated circulating aspartate aminotransferase concentration
• Feeding difficulties

Also known as: CPT I deficiency; CPT1A deficiency; L-CPT1 deficiency; carnitine palmitoyl transferase 1A deficiency; carnitine palmitoyl transferase IA deficiency