mucolipidosis II

mucolipidosis II
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), and clinically by severe growth impairment, minimal hepatomegaly, extreme mental and motor retardation, and clear corneas. It is an autosomal recessive disorder due to mutation in the GNPTAB gene (locus: 12q23.3), which encodes the alpha and beta subunits of UDP-N-acetylglucosamine–lysosomal-enzyme N-acetylglucosamine-phosphotransferase, resulting in failure of lysosomal enzymes to be incorporated into lysosomes. Called also I-cell disease.

Medical dictionary. 2011.

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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 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

  • mucolipidosis IIIC — mucolipidosis III gamma a rare variant form of mucolipidosis; it is an autososmal recessive disorder due to mutation in the GNPTG gene (locus: 16p), which encodes the gamma subunit of UDP N acetylglucosamine–lysosomal enzyme N acetylglucosamine …   Medical dictionary

  • mucolipidosis III — a term usually used to denote mucolipidosis III alpha/beta; it can be used to include mucolipidosis III gamma …   Medical dictionary

  • mucolipidosis tipo I — Eng. Type I mucolipidosis Ver síndrome de Spranger …   Diccionario de oftalmología

  • mucolipidosis tipo II — Eng. Type II mucolipidosis Ver enfermedad de las células de inclusión …   Diccionario de oftalmología

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