The diagnosis may be provisionally made on clinical grounds. 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 including adenosine nucleotide transporter deficiency and decreases in the respiratory chain complexes I and IV can also be done. Differential diagnosis This condition forms part of the spectrum of TMCO1 defects. There may be some overlap in features.
Pascual-Castroviejo syndrome type 1
Arakawa's syndrome II
Bogart–Bacall syndrome
Gómez–López-Hernández syndrome
McGillivray syndrome
Larsen syndrome
Michels Caskey syndrome
Havana syndrome