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Glutaric aciduria in progressive choreo‐athetosis
Author(s) -
Brandt N. J.,
Brandt S.,
Christensen E.,
Gregersen N.,
Rasmussen K.
Publication year - 1978
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1978.tb04131.x
Subject(s) - athetosis , hyperkinesis , pediatrics , medicine , cerebral palsy , glutaric acid , endocrinology , chorea , physical therapy , chemistry , biochemistry , disease
The clinical symptoms in a 10‐year‐old girl with progressive dystonic cerebral palsy are described. The biochemical findings were dominated by large amounts of glutaric acid in the urine. The disorder is caused by impairment of the degradation of glutaryl‐CoA. A survey is given of the clinical and biochemical symptoms, based on the five cases reported so far. It is concluded that patients with progressive dystonic palsy should be examined for disorders in the metabolism of organic acids.