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
Carnitine deficiency
Carnitine transporter deficiency
Carnitine uptake defect
SPCD
Systemic carnitine deficiency
Systemic primary carnitine deficiency