Blindness Due to Non-Ketotic Hyperglycinemia: Report of a 38-Year-Old, the Oldest Case to Date.

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概要

• 論文の詳細を見る

• We report a 38-year-old woman with a mild form of hyperglycinemia complicated with optic nerve atrophy and convulsion. She was normal at birth and showed normal mental and physical development. After the age of 13, her visual acuity rapidly decreased. At the age of 33, she had numerous episodes of tonic seizures lasting for 1-2 minutes. She had optic atrophy, but no intellectual impairment. Glycine levels of the plasma, urine and cerebrospinal fluid were markedly increased, but the CSF/serum glycine ratio was slightly higher than the normal range. Although there is one case of retinal impairment of hyperglycinemia in the literature, this is the first report of blindness with hyperglycinemia in a 38-year-old woman.(Internal Medicine 32: 641-642, 1993)

• 社団法人　日本内科学会の論文

著者

• Kuzuhara Shigeki

  The Department Of Neurology Mie University School Of Medicine

• Murai Katsumasa

  The Department Of Neurology Mie University School Of Medicine

• MIYAZAKI Masao

  the Department of Neurology, Yamada Red Cross Hospital

• TANAKA Yutaka

  the Department of Neurology, Yamada Red Cross Hospital

• TSUDA Mitsunori

  the Department of Neurology, Yamada Red Cross Hospital

関連論文

• Significant Decreased Insulin Secretion in a Diabetic Patient with Clinically Probable Multiple Sclerosis
• Cerebral Atrophy and Convulsive Seizures after Recovery from Cerebral Edema and Coma in a Patient with Fulminant Hepatitis B
• Blindness Due to Non-Ketotic Hyperglycinemia: Report of a 38-Year-Old, the Oldest Case to Date.
• Late-Onset Homozygous Protein C Deficiency Manifesting Cerebral Infarction as the First Symptom at Age 27.

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