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hyperargininemia/ataxia
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Hyperargininemia Presenting as Intermittent Ataxia and Cerebellar Atrophy
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Argininemia.
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The clinical features of argininemia in two cousins included hyperactivity, spasticity, ataxia, retardation, and repeated attacks of hyperammonemia. Study of a large kindred suggests that arginase-deficiency is transmitted as a Mendelian recessive. Treatment with an essential amino acid mixture with
[A case of complicated form of hereditary spastic paraplegia associated with hypoplasia of the corpus callosum and cataracta].
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Autosomal dominant, autosomal recessive and X-linked recessive varieties of spastic paraplegia have been recognized. Recently, Japanese patients with complicated form of autosomal recessive hereditary spastic paraplegia (HSP) associated with hypoplasia of the corpus callosum have been reported by
A new French-Canadian family affected by hyperargininaemia.
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A new French-Canadian family from the province of Quebec is reported, in which a male child was diagnosed as hyperargininaemic after showing positive tests for cystinuria on neonatal screening. The child has no residual activity of erythrocyte arginase, and a plasma arginine level of 633 mumol/l.
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