The presentation of<unk>  may begin during infancy, features that occur are: low blood sugar, weak muscle tone, and liver problems. Infants with this disorder are at risk for heart problems, breathing difficulties, and pigmentary retinopathy. Signs and symptoms of<unk>  that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities called peripheral neuropathy. Some who have MTP deficiency show a progressive course associated with myopathy, and recurrent rhabdomyolysis.
Mitochondrial trifunctional protein deficiency
Mitochondrial complex II deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Carnitine-acylcarnitine translocase deficiency
Glutathione synthetase deficiency
Systemic primary carnitine deficiency
Creatine transporter defect
Carnitine palmitoyltransferase II deficiency