Lysine malabsorption syndrome.
Incidence
Autosomal recessive. Apparently only one case reported in Japan.
Clinical Characteristics
In a 21-month-old Japanese girl with physical and mental retardation, Omura et al. (1976) found excessive lysine in the urine, low lysine in the serum, and impaired intestinal absorption of lysine. They postulated a specific defect in lysine transport in the intestine and renal tubule. No information on the family was recorded.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Quantitative aminoacids in plasma and urine: Hyperlysinuria. Low serum lysine.