Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content + At a Glance Download Section PDF Listen ++ Microcephaly at birth, low birth weight, severe mental retardation, and dwarfism. Diabetes mellitus is associated. + Synonym Download Section PDF Listen ++ Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus. + Genetic Inheritance Download Section PDF Listen ++ Autosomal recessive. + Clinical Aspects Download Section PDF Listen ++ Dwarfism, microcephaly, hypoplastic enamel of teeth, diabetes mellitus. Excessive quantities of alanine in urine. + Anesthetic Considerations Download Section PDF Listen ++ Ensure proper control of diabetes and insulin requirements. Check blood gas analysis and blood lactate level because of the potential association with chronic lactic acidosis. Mental retardation may cause the patient to be uncooperative at induction of anesthesia and the benefit of a premedication must be weighed against the severity of the clinical condition. It is essential to ensure proper perioperative control of diabetes mellitus. Chronic lactic acidosis may be present and should be treated accordingly before any elective surgical procedures. + References Download Section PDF Listen ++Stimmler L, Jensen N, Toseland P: Alaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus in two sisters. Arch Dis Child 45:682, 1970. [PubMed: 5477682]