203750.G.1

United Arab Emirates

Episodic ketoacidosis

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000019.4:c.86_87dup			Alpha-Methylacetoacetic Aciduria
NM_000019.4:c.854C>T			Alpha-Methylacetoacetic Aciduria

2 mutations detected in 3 patients detected by neonatal screening; zygosity not known