[PDF] Glutaric aciduria type 1 : acute decompensation

Source:
British Inherited Metabolic Disease Group
Publisher:
British Inherited Metabolic Disease Group (BIMDG)
Publication date:
01 January 2008

Abstract

 

Glutaric aciduria is an inherited disorder of the breakdown of certain amino acids, notably lysine.  Any metabolic stress can lead to serious illness, with  encephalopathy - a reduced level  of consciousness and other neurological abnormalities. Following these episodes, patients often have severe permanent neurological disability, particularly a  movement disorder. The damage results from the accumulation of glutaric acid and other toxic metabolites. Patients under 6 years of age are at most risk of neurological damage so treatment of the children must be very careful.  Treatment aims to minimise the accumulation of toxic metabolites by preventing protein breakdown and to promote their excretion by the use of carnitine.

Sections of this guideline include: background, Initial and ongoing management, oral and intravenous feeding, progress monitoring and discharge.