Maple syrup urine disease (branched-chain oxoaciduria)
| Autor: | Georg F. Hoffmann, William L. Nyhan, Bruce A. Barshop, Aida Al-Aqeel |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Hyperglycinemia Chemistry Maple syrup urine disease nutritional and metabolic diseases medicine.disease Status spongiosus Autosomal recessive trait Endocrinology Valine Internal medicine medicine In patient Leucine Isoleucine |
| Zdroj: | Atlas of Inherited Metabolic Diseases ISBN: 9781315114033 |
| DOI: | 10.1201/9781315114033-19 |
| Popis: | Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acid metabolism in which elevated quantities of leucine, isoleucine, and valine and their corresponding oxo- and corresponding hydroxyacids accumulate in body fluids. The electroencephalogram of the newborn with MSUD has been described as a comb-like rhythm of spindle-like sharp waves over the central regions and multiple shifting spikes and sharp waves with suppression bursts. The usual neuropathologic finding in patients dying of MSUD is a generalized status spongiosus of the white matter similar to that seen in phenylketonuria and nonketotic hyperglycinemia. Oxidation of labeled leucine in vivo served as a much better discriminant than in vitro enzyme activity of variant forms of MSUD. MSUD is transmitted as an autosomal recessive trait. This is true of each of the variants. Classic MSUD has been seen throughout the world and in all ethnic groups. |
| Databáze: | OpenAIRE |
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