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Microcephaly at birth, low birth weight, severe mental retardation, and dwarfism. Diabetes mellitus is associated.


Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus.


Autosomal recessive.


Dwarfism, microcephaly, hypoplastic enamel of teeth, diabetes mellitus. Excessive quantities of alanine in urine.


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.

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]

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