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

单词	oasthouse urine disease
释义	DictionarySeedisease oasthouse urine disease 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
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