Diagnosis of<unk>  is often confirmed using tandem mass spectrometry. Genetic counseling is available for this condition. Additionally the following exams are available: * CBC * Urine test
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