Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification
| Autor: | I. Marquardt, M. Grotzke, K. Heldt, U. Wendel, Bernd Schwahn |
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| Rok vydání: | 2005 |
| Předmět: |
Male
Endocrinology Diabetes and Metabolism Physiology Brain damage Biology Biochemistry Mass Spectrometry Neonatal Screening Endocrinology Maple Syrup Urine Disease Pregnancy Detoxification Genetics medicine Humans Infant Nutritional Physiological Phenomena Diet Fat-Restricted Molecular Biology Newborn screening Maple syrup urine disease Metabolic disorder Infant Newborn nutritional and metabolic diseases medicine.disease Protein catabolism Early Diagnosis Female Leucine medicine.symptom Isoleucine Amino Acids Branched-Chain |
| Zdroj: | Molecular Genetics and Metabolism. 84:313-316 |
| ISSN: | 1096-7192 |
| DOI: | 10.1016/j.ymgme.2004.11.010 |
| Popis: | Maple syrup urine disease (MSUD) is a genetic metabolic disorder resulting from the defective activity of branched-chain 2-ketoacid dehydrogenase complex. Due to the metabolic block, high concentrations of the branched-chain amino acids (BCAA) leucine, valine, isoleucine, and allo-isoleucine as well as their corresponding branched-chain 2-keto acids accumulate in patients on a BCAA-unrestricted diet or during episodes with increased protein catabolism. Early diagnosis and management are essential to prevent permanent brain damage. Newborn screening by tandem MS allows for detection of elevated BCAA concentrations in blood in patients with classical MSUD before they show severe encephalopathic symptoms. Here, we report that newborn screening by expanded tandem MS enables for reversing the intoxication in newborns with MSUD within 24-48 h without any need for extraneous detoxification and thus decreasing the risk of brain damage during a particularly vulnerable period. |
| Databáze: | OpenAIRE |
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