mucolipidosis

Any of a group of lysosomal storage diseases in which symptoms of visceral and mesenchymal mucopolysaccharide, glycoprotein, oligosaccharide, or glycolipid storage are present; clinically, they bear a superficial resemblance to the mucopolysaccharidoses; autosomal recessive inheritance. [muco- + lipid + -osis, condition]
- m. I [MIM*256550] m. somewhat like a mild form of Hurler syndrome with coarse facial features, macular cherry red spots, myoclonus epilepsy, mild dysostosis multiplex, and moderate mental retardation due to neuraminidase deficiency; autosomal recessive inheritance caused by mutation in the neuraminidase gene (NEU) on 6p. SYN: lipomucopolysaccharidosis.
- m. II [MIM*252500] a metabolic disorder with onset in early childhood characterized by clinical and radiographic findings similar to those in Hurler syndrome including gum hypertrophy, thoracic dysplasia, congenital hip dislocation, and mental retardation; vacuolated lymphocytes and unusual inclusion bodies in cultured fibroblasts (I-cells) are found; lysosomal enzymes are increased in serum, spinal fluid, and urine; urinary mucopolysaccharides are normal; associated with a deficiency of N-acetylglucosaminyl-1-phosphotransferase; autosomal recessive inheritance. SYN: I-cell disease, inclusion cell disease.
- m. III [MIM*252600] m. with mild Hurlerlike symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip; aortic and mitral valve disease are often present; associated with a deficiency of N-acetyl-α-glucosaminidase or other enzyme deficiencies such as lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase in mutant fibroblasts lacks the ability to recognize lysosomal enzymes and specific substrates for phosphorylation; autosomal recessive inheritance. SYN: pseudo-Hurler polydystrophy, pseudopolydystrophy.
- m. IV [MIM*252650] psychomotor retardation with cloudy corneas and retinal degeneration, with inclusion cells in cultured fibroblasts; the pathogenesis is uncertain; autosomal recessive inheritance.

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mu·co·lip·i·do·sis .myü-kō-.lip-ə-'dō-səs n, pl -do·ses -.sēz any of several metabolic disorders that are marked by the accumulation of glycosaminoglycans and lipids in tissues and by lysosomal enzymes which are produced in deficient amounts or which fail to be incorporated into lysosomes, that are inherited as autosomal recessive traits, and that have characteristics (as mental retardation) resembling Hurler's syndrome

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mu·co·lip·i·do·sis (mu″ko-lip″ĭ-doґsis) pl. mucolipidoґses. any of a group of lysosomal storage diseases in which both glycosaminoglycans (mucopolysaccharides) and lipids accumulate in tissues but without excess of glycosaminoglycans in the urine.

Medical dictionary. 2011.

Look at other dictionaries:

  • Mucolipidosis — Classification and external resources ICD 10 E77.0 E77.1 ICD 9 …   Wikipedia

  • mucolipidosis — trastornos metabólicos caracterizados por una acumulación de mucopolisacáridos y lípidos en los tejidos, pero sin un exceso de mucopolisacáridos en la orina. Las mucolipidosis incluyen la enfermedad de células con inclusiones (mucolipidosis II)… …   Diccionario médico

  • mucolipidosis IV — un desorden metabólico bastante raro que se cree se debe a una deficiencia del trasporte de la proteína que constituye el canal de algunos receptores. En consecuencia, se produce la acumulación de ciertos mucolípidos y complejos mucopolisacáridos …   Diccionario médico

  • mucolipidosis II — Véase enfermedad de células con inclusiones. Diccionario Mosby Medicina, Enfermería y Ciencias de la Salud, Ediciones Hancourt, S.A. 1999 …   Diccionario médico

  • mucolipidosis II — alpha/beta a rapidly progressing disease of young children, characterized histologically by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I cells) …   Medical dictionary

  • mucolipidosis — noun Any of several inherited lysosomal storage diseases characterized by an accumulation of mucopolysaccharides and lipids in tissues …   Wiktionary

  • mucolipidosis I — sialidosis …   Medical dictionary

  • mucolipidosis IV — an autosomal recessive neurodegenerative lysosomal storage disorder caused by mutation in the MCOLN1 gene (locus: 19p13.3 p13.2), which encodes a membrane protein important in endocytosis and lysosomal transport. It is characterized by… …   Medical dictionary

  • Mucolipidosis type IV — Classification and external resources ICD 10 E75.1 OMIM 252650 DiseasesDB …   Wikipedia

  • mucolipidosis IIIA — mucolipidosis III alpha/beta an autososmal recessive disorder due to mutation in the same gene as in mucolipidosis II alpha/beta; more residual enzyme activity remains and the clinical characteristics are milder. Called also pseudo Hurler… …   Medical dictionary

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