Orthopedics > OCOSH Classification > Bone Diseases > Metabolic Bone Diseases > Mucolipidoses

Mucolipidoses (Subscribe)

A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. Mental retardation and skeletal changes, most notably dysostosis multiplex, occur frequently.

Resources

I-cell disease information

Location: http://www.diseasesdatabase.com/ddb29175.htm

"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; inherited...

[Categories]

- OCOSH Classification: Bone Diseases: Metabolic Bone Diseases: Mucolipidoses

View Details Visit Resource Review It Rate It Bookmark It Added: Fri Dec 22 2006

Mucolipidosis III information

Location: http://www.diseasesdatabase.com/ddb29378.htm

2 synonyms or equivalents were found. Mucolipidosis III aka/or Pseudo-Hurler polydystrophy may cause or feature Symptoms and Signs Arthropathy Short stature Psychiatric conditions Learning disability

[Categories]

- OCOSH Classification: Bone Diseases: Metabolic Bone Diseases: Mucolipidoses

View Details Visit Resource Review It Rate It Bookmark It Added: Fri Dec 22 2006

Mucolipidosis IV information

Location: http://www.diseasesdatabase.com/ddb32693.htm

2 synonyms or equivalents were found. Mucolipidosis IV aka/or Ganglioside sialidase deficiency may cause or feature Miscellaneous syndromes Hypochlorhydria Symptoms and Signs Corneal opacity Hypotonia (skeletal muscle) Retinal pathology Psychiatric conditions Learning disability

[Categories]

- OCOSH Classification: Bone Diseases: Metabolic Bone Diseases: Mucolipidoses

View Details Visit Resource Review It Rate It Bookmark It Added: Fri Dec 22 2006