Carnitine deficiency syndrome

Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three clinical forms: lethal neonatal, severe infantile hepatocardiomuscular and myopathic. [Source: Wikipedia ]

Synonyms
Carnitine deficiency
Carnitine transporter deficiency
Carnitine uptake defect
SPCD
Systemic carnitine deficiency
Systemic primary carnitine deficiency
May Cause
Cardiomegaly
Cardiomyopathy
Heart failure
Hydrops fetalis
Hypoglycemia
Myopathy