2-methylbutyrylglycine

Ethylmalonic encephalopathy (EE) is a rapidly progressive autosomal recessive mitochondrial disease caused by biallelic… Expand

Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency is an autosomal recessive disorder of isoleucine metabolism… Expand

Ethylmalonic encephalopathy (EE) is a rare, recently defined inborn error of metabolism which affects the brain, gastrointestinal… Expand

BACKGROUND Isolated excretion of 2-methylbutyrylglycine (2-MBG) is the hallmark of short/branched-chain acyl-CoA dehydrogenase… Expand

An 4-mo-old male was found to have an isolated increase in 2-methylbutyrylglycine (2-MBG) and 2-methylbutyrylcarnitine (2-MBC) in… Expand

Objective: To determine an underlying genetic defect within the differential diagnosis of congenital multicore myopathy… Expand

Ethylmalonic encephalopathy (EE), an organic aciduria of unknown etiology characterized by developmental delay, hypotonia, and… Expand

Five urine samples were collected in clinically quiet periods over a period of one year from a patient suffering from D-glyceric… Expand

A number of previously unrecognized abnormal metabolites have been identified and quantitated in the urine of a patient with an… Expand

Abstract A child with β-methylcrotonylglycinuria and β-hydroxyisovalericaciduria has been shown to excrete a large amount of a… Expand