oasthouse urine disease


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Related to oasthouse urine disease: oasthouse syndrome

oasthouse urine disease

 [ōst´hows]
methionine malabsorption syndrome.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

oast·house u·rine dis·ease

an autosomal recessively inherited metabolic defect in the absorption of methionine that is converted by intestinal bacteria to α-hydroxybutyric acid; characterized by diarrhea, tachypnea, and marked urinary excretion of α-hydroxybutyric acid (causing an odor like that of an oasthouse).
[oast, kiln for drying hops, malt, or tobacco]
Farlex Partner Medical Dictionary © Farlex 2012
A rare autosomal recessive [MIM 250900] disorder characterised by increased alpha-hydroxybutyric acid in urine and stools, due to defective intestinal absorption of methionine and other amino acids; the GI bacteria ferment the excess methionine into alpha-hydroxybutyric, alpha-ketobutyric, and alpha-aminobutyric acids which are absorbed and excreted imparting an oasthouse-ish odor
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

oasthouse urine disease

Metabolic disease A rare AR disorder characterized by ↑ α-hydroxybutyric acid in urine and stools, due to defective intestinal absorption of methionine and other amino acids; the GI bacteria ferment the excess methionine into α-hydroxybutyric, α-ketobutyric, and α-aminobutyric acids which are absorbed and excreted imparting an oasthouse-ish odor, Clinical White hair, failure to thrive, seizures, hypotonia, edema, mental retardation; α-hydroxybutyric acid may also rarely appear in the urine of Pts with PKU
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

Smith,

Allan J., 20th century English physician.
Smith-Strang disease - autosomal recessive disease with onset of loss of response to stimuli, mental deterioration, edema, and white hair shortly after birth. Synonym(s): methionine malabsorption syndrome; oasthouse urine disease
Medical Eponyms © Farlex 2012