Table 1.

Summary of the genes implicated in genetic cofactor deficiencies

Mutated gene	Function	References
Thiamine transporter 2	Thiamine transporter	[16]
Biotinidase	Biotinidase enzyme	[17]
Decaprenyl Diphosphate Synthase Subunit 2	CoQ10 synthesise enzyme	[16]
Pyruvate Dehydrogenase E1 Subunit Alpha 1	Subunit of PDH	[18]
Thiamin Pyrophosphokinase 1	Thiamine metabolism	[19]
Acyl-CoA dehydrogenase family member 9	Subunit of complex I	[20]

CoQ₁₀ coenzyme Q10, PDH pyruvate dehydrogenase