MAPLE SYRUP URINE DISEASE
\mˈe͡ɪpə͡l sˈɪɹʌp jˈʊ͡əɹɪn dɪzˈiːz], \mˈeɪpəl sˈɪɹʌp jˈʊəɹɪn dɪzˈiːz], \m_ˈeɪ_p_əl s_ˈɪ_ɹ_ʌ_p j_ˈʊə_ɹ_ɪ_n d_ɪ_z_ˈiː_z]\
Definitions of MAPLE SYRUP URINE DISEASE
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an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
By Princeton University
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an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
By DataStellar Co., Ltd
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An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain ammino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
By DataStellar Co., Ltd
Word of the day
basidiomycota
- comprises fungi bearing the spores on basidium: Gasteromycetes (puffballs); Tiliomycetes (comprising orders Ustilaginales (smuts) and Uredinales (rusts)); Hymenomycetes (mushrooms; toadstools; agarics; bracket fungi); in some classification systems considered a division of kingdom comprises fungi bearing spores on a basidium; includes Gasteromycetes (puffballs) Tiliomycetes comprising the orders Ustilaginales (smuts) and Uredinales (rusts) Hymenomycetes (mushrooms, toadstools, agarics bracket fungi).
Nearby Words
- mapkks
- maple
- maple family
- maple sugar
- maple syrup
- maple syrup urine disease
- maple-leaf
- maple-leaf begonia
- maple-leaved bayur
- maple-like
- maple-sugar