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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. Autosomal recessive.

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.

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