Glutaric aciduria type 1 - Importance of early diagnosis and treatment

Bushra Afroze, Zabedah Mohammad Yunus

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)

Abstract

Glutaric aciduria type 1 is a rare inherited organic academia. Untreated patients characteristically develop dystonia secondary to striatal injury during early childhood, which results in high morbidity and mortality. In patients diagnosed during neonatal period, striatal injury can be prevented by metabolic treatment including low lysine diet, carnitine supplementation and aggressive emergency treatment during acute episode of inter current illnesses. However, after the onset of neurological damage initiation of treatment is generally not effective. Therefore; glutaric aciduria type 1 is included in newborn screening panel for inherited metabolic diseases in many countries. We describe two children in a family with glutaric aciduria type 1 and their different long term outcomes. The first child was diagnosed late leading to severe neurological damage. The second child was diagnosed in the neonatal period as a result of selective high-risk screening and was treated appropriately giving a normal growth.

Original languageEnglish
Pages (from-to)593-595
Number of pages3
JournalJournal of the Pakistan Medical Association
Volume64
Issue number5
Publication statusPublished - May 2014

Keywords

  • Emergency treatment
  • Glutaric aciduria type I
  • Pakistani children

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