An inherited disease caused by malabsorption of methionine
and secondary malabsorption of other amino acids. The unabsorbed methionine
is converted to α-hydroxybutyric acid by intestinal bacteria. Urine has
characteristic smell of dried malt. Clinical characteristics include mental
retardation, seizures, white hair, diarrhea, and episodes of generalized edema.
Only a single case described.
Patient had white hair, rapid breathing,
convulsions, and mental retardation. Urine had characteristic oasthouse
smell. Another patient who may have had this condition had mental
retardation, diarrhea, convulsions, and white hair.
Anesthetic management in this condition
has not been described. No particular problems are anticipated based on the
clinical description. Agents that may precipitate seizures, such as
enflurane, should be avoided.
Ulshen M: Malabsorptive disorders, in Behrman RE, Kliegman RM, Arvin AM
(eds): Nelson Textbook of Pediatrics. 15th ed. Philadelphia, WB Saunders, 1995.