Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus

Stimmler et al. (1970) described 2 sisters born in 1963 and 1964 with microcephaly at birth, low birth weight, severe mental retardation and dwarfism, small teeth, and diabetes mellitus. Excessive quantities of alanine were found in the urine. Alanine, pyruvate, and lactate were elevated in the blood. Pyruvate was thought to be a source of the alanine. The authors contrasted the findings with those in the condition described by Haworth et al. (1967) and in Leigh subacute necrotizing encephalopathy with lactic acidosis (Worsley et al., 1965). The main differences were elevated plasma chloride and lack of hyperalaninemia in the other two conditions.