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At a glance

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.

History

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).

Incidence

The exact incidence remains unknown. Only few cases have been reported in the medical literature.

Genetic inheritance

It is believed inherited as an autosomal recessive.

Clinical aspects

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 considerations

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.

References

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Smith,  AJ, Strang  LB: An inborn error of metabolism with the urinary excretion of alpha-hydroxy-butyric acid and phenylpyruvic acid. Arch Dis Child 33:109–113, 1958.  [PubMed: 13534741]
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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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