Journal article
L-Glutaric acidemia: investigation of a patient and his family.
Abstract
A 5-month-old infant had an unusual combination of clinical signs and symptoms. These consisted of irritability, dystonia, lack of head control, grimacing, opisthotonos, choreoathetoid movements, delayed development, and severe metabolic acidosis. Metabolic investigation by gas-liquid chromatography/mass spectrometry detected urinary organic acids. This confirmed the diagnosis of L-glutaric aciduria. The concentration of L-glutaric acid in the …
Authors
Whelan DT; Hill R; Ryan ED; Spate M
Journal
, Vol. 63, No. 1, pp. 88–93
Publisher
American Academy of Pediatrics (AAP)
Publication Date
January 1, 1979
DOI
10.1542/peds.63.1.88
ISSN
0031-4005