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Familial hyperlysinemia in a patient presenting with progressive spastic paraparesis

Familial hyperlysinemia is an autosomal recessive inherited disorder caused by alpha-aminoadipic semialdehyde synthase deficiency. [1] Alpha-aminoadipic semialdehyde synthase is bifunctional in that it possesses two enzyme activities (lysine-ketoglutarate reductase and saccharopine dehydrogenase) that carry out sequential steps in the degradation of lysine. [1] The disorder is extremely rare and has been thought by some authors to be entirely benign. [2] There are no reports in the literature of an association between isolated or familial hyperlysinemia and progressive spastic paraparesis in adulthood.

We report a patient with a history of intellectual impairment and epilepsy presenting with progressive spastic paraparesis. Metabolic screening of the patient identified the presence of isolated hyperlysinuria and hyperlysinemia. One of his siblings who had a history of epilepsy and gait difficulties caused by a spastic paraparesis also had hyperlysinuria.

A 27-year-old man with a history of epilepsy and intellectual impairment presented in August 1993 with a 16-month history of progressive difficulty walking. His clinical examination revealed mild to …