SYNOPSIS A 6-month-old child with a history of recurrent infections, convulsions, and retarded development had biochemical findings which were typical of histidinaemia. The enzyme histidase has been shown to be absent from the skin of the patient. The results of histidine-loading experiments in the parents of the child suggest that they may both metabolise this amino-acid abnormally. A simple method of estimating histidine in plasma and urine is described.In 1961 Ghadimi, Partington, and Hunter described an inherited disorder of histidine metabolism. They found two sisters who had histidinaemia, with an increased excretion of histidine and other imidazole compounds. Similar abnormalities have now been described in four other children
The concentrations of total calcium, 2 5-hydroxy vitamin D [25-(OH)D] and
1,25-dihydroxyvitamin D3 [l,25-(OH)(2)D(3)] were measured in serum obtained from prosimians,
the brown lemurs. The mean serum calcium level was 10.6 mg/dl in male and
female lemurs. The mean serum mean 25-(OH)D concentration in serum from male and
female lemurs was 27.1 and 31.0 ng/ml, respectively. The mean serum level of 1,25-
(OH)(2)D(3) in the female and male lemurs was 65.2 and 65.9 pg/ml, respectively. A small
segment of the lemurs had hypercalcemia and elevated serum concentrations of 25-(OH)D
or 1,25-(OH)(2)D(3), suggesting the idea that the episodic ingestion of a large quantity of the
calcium- and vitamin D-enriched diet normally provided ad libitum might cause hypercalcemia.
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