It is 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.
This medical condition was first described in 1958 and was originally called “Oast House urine disease.” The infant had white hair, hyperpnea, convulsions, and mental retardation. The urine had a characteristic and unique odor like that of an oast house (building for drying hops).
The exact incidence remains unknown. Only few cases have been reported in the medical literature.
It is believed inherited as an autosomal recessive.
Patient had white hair, rapid breathing, convulsions, and mental retardation. Urine had characteristic oast house 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.
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