210200.G.1

United Arab Emirates

Feeding difficulties ; Episodic vomiting ; Diarrhea ; Lethargy ; Hypotonia

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020166.5:c.89+2_89+34del			3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
NM_020166.5:c.694C>T			3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
NM_020166.5:c.1106C>G			3-Methylcrotonyl-CoA Carboxylase 1 Deficiency

3 mutations identified in unknown number of patients with 3-Methylcrotonyl-CoA carboxylase deficiency type I