Glutaric aciduria type II

descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 1996 English Publisher:Springer Science and Business Media LLCJournal:Molecular and Chemical Neuropathology, volume 27, pages 81-83 (issn: 1044-7393,

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Authors: Graziella Uziel;

doi: 10.1007/bf02815054

Glutaric aciduria type II

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Abstract

1. Our patient has riboflavin-sensitive glutaric aciduria type II but with a very unusual presentation. None of the other patients we have seen (7 in all) have, for instance, presented with ataxia. 2. Glutaric aciduria type II can cause brain damage in spite of the absence of acute metabolic distress. An abnormality of white matter is a common feature of different metabolic disorders and is not only the expression of irreversible degenerative diseases.

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