The diagnosis may be provisionally made on clinical grounds. Ophthalmologists, neurologists, cardiologists, and pediatricians are some of the specialists who can make the diagnosis. Because of the widespread impact of the disease, it is most likely to be a collaborative effort. Acute lactic acidosis and heart disease are the greatest threats to life and must be treated promptly. Yet, more than half of newborns die before they reach their second birthday, and some live a decade or more. In terms of severity, there is a considerable range. Further diagnostic tests include serum and urine analysis for lactic acid, a chest X-ray (or cardiac CT or MRI) and echocardiography. Biopsies from cardiac and skeletal muscle will show the presence of lipid and glycogen. testing for mitochondrial abnormalities, ANT deficiency, and decreases of respiratory chain complexes I and IV can also be done. Differential diagnosis * Isolated ATP synthase deficiency * Barth syndrome * TMEM70 deficiency
Sengers syndrome
Strømme syndrome
Galloway Mowat syndrome
Andersen–Tawil syndrome
Aase syndrome
Weaver syndrome
Adams–Nance syndrome
Jacobsen syndrome