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Article

Clues and challenges in the diagnosis of intermittent maple syrup urine disease.

European journal of medical genetics - 1 Jun 2020

Pode-Shakked Naomi, Korman Stanley H, Pode-Shakked Ben, Landau Yuval, Kneller Katya, Abraham Smadar, Shaag Avraham, Ulanovsky Igor, Daas Suha, Saraf-Levy Talya, Reznik-Wolf Haike, Vivante Asaf, Pras Elon, Almashanu Shlomo, Anikster Yair

Abstract excerpt

BACKGROUND: Maple syrup urine disease is a rare autosomal-recessive aminoacidopathy, caused by deficient branched-chain 2-keto acid dehydrogenase (BCKD), with subsequent accumulation of branched-chain amino acids (BCAAs): leucine, isoleucine and valine. While most cases of MSUD are classic, some 20% of cases are non-classic variants, designated as intermediate- or intermittent-types. Patients with the latter form...

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PMID: 32151765
DOI: 10.1016/j.ejmg.2020.103901

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