210200.G.4

Sudan

Hypoglycemia; Episodic metabolic acidosis

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020166.5:c.1441G>T	NA	NA	3-Methylcrotonyl-CoA Carboxylase 1 Deficiency

UAE resident(s) of Sudanese origin. Number of patient(s) unknown. These patients also have 519bp deletion in MCCC1 gene.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
210200.G.2	Sudan	Hypoglycemia; Episodic metabolic acidosis	Unknown			Mutations identified in unknown number of Emiratis
210200.G.3	Sudan	Hypoglycemia; Episodic metabolic acidosis	Unknown			UAE resident(s) of Jordanian origin. Number of patient(s) unknown.