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Smith-Strang disease

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An inherited disease due to malabsorption of methionine and secondary malabsorption of other amino acids.

Description

An inherited disease due to malabsorption of methionine and secondary malabsorption of other amino acids, in which some of the unabsorbed methionine is converted by colonic bacteria to a-hydroxybutyric acid. This gives the urine a characteristic odor similar to that of dried malt or an oasthouse (a building for drying hops). The patients have white hair, mental retardation, convulsions, diarrhea, recurrent episodes of generalized oedema, and increased respiratory rate. Inheritance is autosomal recessive.

First described in 1958 by Smith and Strang, and in 1964 by the Belgian paediatrician C. Hooft, J. Timmermanns (paediatrician, Gent), J. Snoeck (paediatrician, Louvain), I. Antener (Swiss biochemist [f], Vevey), W. Oyaert (biochemist, Gent), and Ch. van den Hende (biochemist, Gent).

Bibliography

  • A. J. Smith, L. B. Strang:
    An inborn error of metabolism with urinary excretion of alpha-hydroxy-butyric acid and phenyl-pyruvic acid.
    Archives of Disease in Childhood, London, 1958, 33: 109-113.
  • C. Hooft, J. Timmermanns, J. Snoeck, I. Antener, W. Oyaert, Ch. van den Hende:
    Methionine malabsorptions syndrome.
    Annales paediatrici. International Review of Pediatrics, Basel, 1965, 205: 73-104.
  • C. Hooft, D. Carton, J. Snoeck, et al:
    Further investigation in the methionine malabsorption syndrome.
    Helvetica paediatrica acta, Basel, 1968, 23: 334-349.

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