Abstract
Two daughters of related Turkish parents were investigated at the ages of 11 8/12 and 16 8/12 years for severe neurologic disease. This was characterised by pronounced psychomotor retardation, ataxia, dysmetria, dystonia and choreiform movements. Both girls were moderately obese and showed macrocephaly without dysmorphy. Laboratory investigation revealed increased protidorhachia (120 and 47 mg/dl), and increased cerebrospinal fluid lysine (80 and 50 μM; nl 10-25) and urinary 2-hydroxyglutaric acid (400-500 μM/g creatinine; nl < 1). Plasma and urinary lysine as well as cerebrospinal fluid 2-hydroxyglutaric acid were normal except for a slightly increased plasma lysine in one patient (270 μU; nl 60-230). Electromyography and nerve conduction velocity were normal. Computerised tomography of the brain was suggestive of leukodystrophy. Conclusion: this seems to be a previously unreported hereditary metabolic disorder. Its basic defect remains to be determined.
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Jaeken, J., Willekens, H. & Corbeel, L. 34 LEUKODYSTROPHY ASSOCIATED WITH HYPERLYSINORHACHIA AND 2-HYDROXYGLUTARIC ACIDURIA. Pediatr Res 24, 266 (1988). https://doi.org/10.1203/00006450-198808000-00060
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DOI: https://doi.org/10.1203/00006450-198808000-00060
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