mannosidosis

[man″o-sĭ-do´sis] an error of metabolism" >inborn error of metabolism, thought to be an autosomal recessive trait, marked by a defect in alpha-mannosidase activity, resulting in lysosomal accumulation of mannose-rich substrates. Clinically, there are coarse features, upper respiratory congestion and infections, profound mental retardation, hepatosplenomegaly, cataracts, radiographic signs of defective ossification, and a gibbus deformity (hump). A much milder form also occurs.

man·no·si·do·sis

(man'ō-si-dō'sis), [MIM*248500] Congenital deficiency of α-mannosidase; associated with coarse facial features, enlarged tongue, mental retardation, kyphosis, radiographic skeletal abnormalities, and vacuolated lymphocytes, with accumulation of mannose in tissues; autosomal recessive inheritance, caused by mutation in the α-mannosidase gene (MANB) on chromosome 19p.

mannosidosis

(măn′ə-sĭ-dō′sĭs)n.1. An inherited lysosomal storage disease (alpha-mannosidosis) characterized by the accumulation of mannose-containing oligosaccharides in the tissues, resulting in symptoms of varying severity that include intellectual disability, enlarged liver and spleen, facial dysmorphism, skeletal abnormalities, immune deficiency, and hearing loss.2. An inherited lysosomal storage disease (beta-mannosidosis) characterized by the accumulation of mannose-containing disaccharides in the tissues, resulting in intellectual disability, hearing loss, and often angiokeratomas.

mannosidosis

(1) Alpha-mannosidosis, see there.
(2) Beta-mannosidosis, see there.

mannosidosis

Alpha-d-mannosidase deficiency Metabolic disease An AR condition caused by a defect in lysosomal alpha B mannosidase Clinical Macrocephaly, thickened calvaria, coarse face, macroglossia, wide-spaced teeth, prognathism, deafness

mannosidosis

An autosomal recessive lysosomal storage disease similar to Hurler's disease, caused by a deficiency of the enzyme alpha mannosidase. There are two types; Type 1leads to an early death from severe systemic disturbances. Type II is less severe.

man·no·si·do·sis

(man'ō-si-dō'sis) [MIM*248500] Congenital deficiency of α-mannosidase; associated with coarse facial features, enlarged tongue and other findings.

单词	mannosidosis
释义	mannosidosis mannosidosis [man″o-sĭ-do´sis] an error of metabolism" >inborn error of metabolism, thought to be an autosomal recessive trait, marked by a defect in alpha-mannosidase activity, resulting in lysosomal accumulation of mannose-rich substrates. Clinically, there are coarse features, upper respiratory congestion and infections, profound mental retardation, hepatosplenomegaly, cataracts, radiographic signs of defective ossification, and a gibbus deformity (hump). A much milder form also occurs. man·no·si·do·sis (man'ō-si-dō'sis), [MIM248500] Congenital deficiency of α-mannosidase; associated with coarse facial features, enlarged tongue, mental retardation, kyphosis, radiographic skeletal abnormalities, and vacuolated lymphocytes, with accumulation of mannose in tissues; autosomal recessive inheritance, caused by mutation in the α-mannosidase gene (MANB)* on chromosome 19p. mannosidosis (măn′ə-sĭ-dō′sĭs)n.1. An inherited lysosomal storage disease (alpha-mannosidosis) characterized by the accumulation of mannose-containing oligosaccharides in the tissues, resulting in symptoms of varying severity that include intellectual disability, enlarged liver and spleen, facial dysmorphism, skeletal abnormalities, immune deficiency, and hearing loss.2. An inherited lysosomal storage disease (beta-mannosidosis) characterized by the accumulation of mannose-containing disaccharides in the tissues, resulting in intellectual disability, hearing loss, and often angiokeratomas. mannosidosis (1) Alpha-mannosidosis, see there. (2) Beta-mannosidosis, see there. mannosidosis Alpha-d-mannosidase deficiency Metabolic disease An AR condition caused by a defect in lysosomal alpha B mannosidase Clinical Macrocephaly, thickened calvaria, coarse face, macroglossia, wide-spaced teeth, prognathism, deafness mannosidosis An autosomal recessive lysosomal storage disease similar to Hurler's disease, caused by a deficiency of the enzyme alpha mannosidase. There are two types; Type 1leads to an early death from severe systemic disturbances. Type II is less severe. man·no·si·do·sis (man'ō-si-dō'sis) [MIM*248500] Congenital deficiency of α-mannosidase; associated with coarse facial features, enlarged tongue and other findings.
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