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

CONCLUSIONS: While newborn screening programs allow for early detection of classic MSUD, cases of the intermittent form might go undetected, and present later in childhood following metabolic derailment, with an array of non-specific symptoms. Our experience with the families reported herein adds to the current knowledge regarding the phenotype and mutational spectrum of this unique inborn error of branched-chain amino acid metabolism, and underscore the high index of suspicion required for its diagnosis. PMID: 32151765 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32151765?dopt=Abstract

Source: European Journal of Medical Genetics - March 5, 2020 Category: Genetics & Stem Cells Authors: Pode-Shakked N, Korman SH, Pode-Shakked B, Landau Y, Kneller K, Abraham S, Shaag A, Ulanovsky I, Daas S, Saraf-Levy T, Reznik-Wolf H, Vivante A, Pras E, Almashanu S, Anikster Y Tags: Eur J Med Genet Source Type: research