methionine malabsorption syndrome

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 syndrome

An 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 syndrome

Oasthouse 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

单词	methionine malabsorption syndrome
释义	DictionarySeesyndrome methionine malabsorption syndrome me·thi·o·nine mal·ab·sorp·tion syn·drome [MIM250900] an inherited disorder in which there is an inability to absorb l-methionine from the gut. methionine malabsorption syndrome An 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 syndrome Oasthouse 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
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