Glutaric aciduria type 1: biochemical investigations and postmortem findings

Bennett, MJ, Marlow, N, Pollitt, RJ and Wales, Jkh (1986) Glutaric aciduria type 1: biochemical investigations and postmortem findings. European Journal of Pediatrics, 145 5: 403-405. doi:10.1007/BF00439248

Author Bennett, MJ
Marlow, N
Pollitt, RJ
Wales, Jkh
Title Glutaric aciduria type 1: biochemical investigations and postmortem findings
Journal name European Journal of Pediatrics   Check publisher's open access policy
ISSN 0340-6199
Publication date 1986-01-01
Sub-type Article (original research)
DOI 10.1007/BF00439248
Open Access Status
Volume 145
Issue 5
Start page 403
End page 405
Total pages 3
Publisher Springer-Verlag
Language eng
Subject 2735 Pediatrics, Perinatology, and Child Health
Abstract Glutaric aciduria type 1 (GA1; deficiency of glutaryl - CoA dehydrogenase) was diagnosed in a 6.5-month-old female infant. Despite a good biochemical response to dietary reduction of lysine and tryptophan, there was no clinical response to diet nor to riboflavin therapy and her neurological condition deteriorated progressively until her death at 10.5 months. At postmortem examination only mild neuropathological abnormalities were found in contrast to previous reports of this condition. High levels of glutarate were found in liver, skeletal muscle, heart muscle and aqueous humor. Eye fluid which is readily available, may be a useful material for the postmortem diagnosis of this, and other organic acidurias when urine is not available.
Keyword Glutaric aciduria type 1
Neurodegenerative disorders
Organic aciduria
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
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