A variety of specialists can make the diagnosis, including ophthalmologists, neurologists, cardiologists, and pediatricians. Due to the widespread impact of the disease, it is most likely a team effort. Both heart disease and metabolic lactic acidosis are life-threatening and must be treated promptly. Nevertheless, many infants die during the neonatal period, while others may live for decades. It is important to note that this condition has a wide range of severity. This disease is caused by mutations in AGK or SLC25A4 genes. The AGK gene encodes the mitochondrial acylglycerol kinase which plays a role in the assembly of adenine nucleotide translocator. The SLC25A4 gene encodes the heart and muscle-specific isoform 1 of the mitochondrial adenine nucleotide translocator.
Sengers syndrome
Strømme syndrome
Galloway Mowat syndrome
Andersen–Tawil syndrome
Aase syndrome
Weaver syndrome
Adams–Nance syndrome
Jacobsen syndrome