Glutaric aciduria type II

Graziella Uziel

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)81-83
Number of pages3
JournalMolecular and Chemical Neuropathology
Volume27
Issue number1
DOIs
Publication statusPublished - Jan 1996

ASJC Scopus subject areas

  • Molecular Biology
  • Clinical Neurology
  • Neuroscience(all)

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