methionine malabsorption syndrome(redirected from oast house disease)
me·thi·o·nine mal·ab·sorp·tion syn·drome[MIM*250900]
an inherited disorder in which there is an inability to absorb l-methionine from the gut.
methionine malabsorption syndromeAn autosomal recessive condition (OMIM:250900) characterised by albinism, hyperpnoea, convulsions and mental retardation after methionine loading, with increased alpha-hydroxybutyric acid, which causes the oasthouse odour.
methionine malabsorption syndromeOasthouse disease An AR condition characterized by albinism, hyperpnea, convulsions and mental retardation after methionine loading, with ↑ α-hydroxybutyric acid, which causes the oasthouse odor
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