I-cell disease information

Description: "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 as an autosomal recessive trait, it is caused by failure of lysosomal enzymes to be incorporated into lysosomes." 3 synonyms or equivalents were found. I-cell disease aka/or Mucolipidosis II aka/or N-acetylglucosaminyl-1-phosphotransferase deficiency may cause or feature Symptoms and Signs Corneal opacity Facies abnormality Fits Gingival swelling Hearing loss Hepatomegaly Hirsutism Hydrocephalus Hypertension, systemic Hypertrichosis Macroglossia Megencephaly Saddle nose deformity Short stature Splenomegaly Cardiac and vascular conditions Aortic valve incompetence Restrictive cardiomyopathy Psychiatric conditions Learning disability