Identification of a Familial Mutation Associated with GABA-Transaminase Deficiency Disease

Lali K. Medina-Kauwe; W.L. Nyhan; K.M. Gibson; A.J. Tobin

Neurobiology of Disease (Aug 1998)

Identification of a Familial Mutation Associated with GABA-Transaminase Deficiency Disease

Lali K. Medina-Kauwe,
W.L. Nyhan,
K.M. Gibson,
A.J. Tobin

Affiliations

Lali K. Medina-Kauwe: Department of Physiological Science, University of California, Los Angeles, California, 90095; Department of Neurology, University of California, Los Angeles, California, 90095; Brain Research Institute, University of California, Los Angeles, California, 90095; Molecular Biology Institute, University of California, Los Angeles, California, 90095; Department of Pediatrics, University of California, San Diego, La Jolla, California, 90093; Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, 75226; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, 75235
W.L. Nyhan: Department of Physiological Science, University of California, Los Angeles, California, 90095; Department of Neurology, University of California, Los Angeles, California, 90095; Brain Research Institute, University of California, Los Angeles, California, 90095; Molecular Biology Institute, University of California, Los Angeles, California, 90095; Department of Pediatrics, University of California, San Diego, La Jolla, California, 90093; Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, 75226; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, 75235
K.M. Gibson: Department of Physiological Science, University of California, Los Angeles, California, 90095; Department of Neurology, University of California, Los Angeles, California, 90095; Brain Research Institute, University of California, Los Angeles, California, 90095; Molecular Biology Institute, University of California, Los Angeles, California, 90095; Department of Pediatrics, University of California, San Diego, La Jolla, California, 90093; Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, 75226; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, 75235
A.J. Tobin: Department of Physiological Science, University of California, Los Angeles, California, 90095; Department of Neurology, University of California, Los Angeles, California, 90095; Brain Research Institute, University of California, Los Angeles, California, 90095; Molecular Biology Institute, University of California, Los Angeles, California, 90095; Department of Pediatrics, University of California, San Diego, La Jolla, California, 90093; Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, 75226; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, 75235

Journal volume & issue: Vol. 5, no. 2
pp. 89 – 96

Abstract

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GABA-transaminase (GABA-T) deficiency disease is a rare recessive disorder characterized by abnormal development, seizures, and high levels of GABA in serum and cerebrospinal fluid. Although some patients are the offspring of consanguineous marriages, most are not. To identify the molecular basis of this disease, we have determined the sequence of human GABA-T cDNA. We have compared the GABA-T cDNA sequences in cultured cells derived from six healthy controls with those from a GABA-T-deficient patient and both parents. Our data indicate that GABA-T deficiency disease may result from an allele that encodes an R220K substitution.

Published in Neurobiology of Disease

ISSN: 0969-9961 (Print); 1095-953X (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry
Website: https://www.journals.elsevier.com/neurobiology-of-disease

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