Microcephaly at birth, low birth weight, severe mental
retardation, and dwarfism. Diabetes mellitus is associated.
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia,
and Diabetes Mellitus.
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