oasthouse urine disease

(redirected from Beery Baby Syndrome)

oasthouse urine disease

 [ōst´hows]
methionine malabsorption syndrome.

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]
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

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

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