Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.4.1.2 (glutamate dehydrogenase)
 4,380 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

By neurophysiologic investigations, we evaluated 20 patients with olivopontocerebellar atrophy (OPCA), comprising 8 with glutamate dehydrogenase (GDH) deficiency and 12 with normal GDH activity. We found sensorimotor, predominantly sensory axonal neuropathy distally in the legs, and peripheral auditory nerve dysfunction (prolonged wave I but normal interpeak latencies in brainstem auditory evoked response) in GDH-deficient patients. These findings seem distinctive enough to serve as the electrophysiologic marker for diagnosis and monitoring of treatment and progression of the disease. The pattern-reversal visual and median nerve somatosensory evoked responses did not differ among the patients and controls.
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PMID:Neurophysiologic study of olivopontocerebellar atrophy with or without glutamate dehydrogenase deficiency. 399 Sep 65

We reported two sibling cases of progressive cerebellar ataxia accompanied with muscular atrophy of Charcot-Marie-Tooth (CMT) type. Autosomal recessive inheritance was suggested because of the parental consanguinity and other family history. The first symptom was ataxic gait in their teens, and speech disturbance appeared later. Subsequently weakness and muscular atrophy developed in the four limbs in their thirties or forties. These symptoms slowly progressed. Neurological examinations revealed weakness, muscular atrophy, and disturbance of superficial and deep sensation in the distal parts of all limbs. Deep tendon reflexes were absent in the four limbs. There were no pyramidal tract signs, nor dementia. Sural nerve biopsy demonstrated the axonal degeneration without any findings suggesting hypertrophic neuritis. MRI study revealed marked cerebellar atrophy. Although plasma amino acid analysis showed elevated glutamate levels in both cases, activities of glutamate dehydrogenase in leukocytes was not reduced. Here, we propose a new disease entity of hereditary cerebellar ataxia and sensorimotor neuropathy associated with elevated plasma glutamate levels. Abnormal glutamate metabolism may be related to the pathogenesis of this disease.
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PMID:[Progressive cerebellar ataxia and distal amyotrophy of Charcot-Marie-Tooth type with hyperglutamataemia:two sibling cases]. 877 5