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Glutaric aciduria type I with high residual glutaryl‐CoA dehydrogenase activity
Author(s) -
Pineda M.,
Ribes A.,
Busquets C.,
Vilaseca M A.,
Aracil A.,
Christensen E.
Publication year - 1998
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.1998.tb12362.x
Subject(s) - glutaric acid , dystonia , medicine , endocrinology , excretion , chemistry , urinary system , biochemistry , psychiatry
Two brothers with dystonia and slight MRI changes in the basal ganglia had normal urinary glutaric acid excretion, but slightly increased 3‐hydioxyglutarate and conjugated glutarate excretions. Both siblings have high residual glutaryl‐CoA dehydrogenase activity, and are compound heterozygotes for two mutations ‐ R227P and V400M ‐ reported to be disease‐causing in patients with glutaric aciduria type I.