2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation | Zendy

Stanley H. Korman | Zendy; Brage Storstein Andresen | Zendy; Avraham Zeharia | Zendy; Alisa Gutman | Zendy; Avihu Boneh | Zendy; James Pitt | Zendy

Open Access

2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

Author(s) -

Stanley H. Korman,

Brage Storstein Andresen,

Avraham Zeharia,

Alisa Gutman,

Avihu Boneh,

James Pitt

Publication year - 2004

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2004.043265

Subject(s) - isoleucine , chemistry , excretion , urine , dehydrogenase , metabolism , metabolic pathway , biochemistry , enzyme , amino acid , leucine

Isolated excretion of 2-methylbutyrylglycine (2-MBG) is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), a recently identified defect in the proximal pathway of L-isoleucine oxidation. SBCADD might be underdiagnosed because detection and recognition of urine acylglycines is problematic. Excretion of 2-ethylhydracrylic acid (2-EHA), an intermediate formed in the normally minor R-pathway of L-isoleucine oxidation, has not previously been described in SBCADD.

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