PAEDIATRIC CASE OF 3-METHYLCROTONYLGLYCINURIA WITH ENCEPHALOPATHY: A CASE REPORT FROM PAKISTAN.
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DOI: 10.55519/jamc-01-12130
Abstract: 3-Methylcrotonylglycinuria is a common inborn error of metabolism (IEM) resulting from the deficiency of 3-Methylcrotonyl-CoA carboxylase (3-MCC) and its prevalence ranges from 1:2400 to 1:6800. The disease may be asymptomatic or may present with signs… read more here.
Keywords: paediatric case; case methylcrotonylglycinuria; case report; case ... See more keywords