2-methylbutyrylglycine

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

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

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

C6-Clo-Dicarboxylic aciduria may be caused by an inborn error of fatty acid 13-oxidation. In the cases reported the defect has… (More)

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

With the exception of beta-kelothiolase (BKT) deficiency, there are no reported inborn errors of human metabolism specific to L… (More)

OBJECTIVE To determine an underlying genetic defect within the differential diagnosis of congenital multicore myopathy… (More)

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

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

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