Metabolic defect: UDP-N-acetylglucosamine-l-phosphotransferase deficiency Other multiple enzyme deficiencies: galactosialidosis | mucolipidosis III

Current page: Mucolipidosis II Select Another Disease Select disease Acid sphingomyel. def. Aspartylglycosaminuria Cystinosis Fabry disease Farber disease Fucosidosis type I Fucosidosis type II Galactosialidosis Gaucher type I Gaucher type II Gaucher type III GM1 gangliosidosis I GM1 gangliosidosis II GM1 gangliosidosis III Infantile sialic acid Krabbé disease Mannosidosis Metachr. leukodys. I Metachr. leukodys. II Metachr. leukodys. III MPS I MPS II Hunter MPS III Sanfilippo MPS IV Morquio MPS VI Maroteaux-Lamy MPS VII Sly Mucolipidosis II Mucolipidosis III Mucolipidosis IV Neuro ceroid lipof I Neuro ceroid lipof II Neuro ceroid lipof III Neuro ceroid lipof IV Pompe disease Pycnodysostosis Salla disease Sandhoff type I Sialidosis type I Sialidosis type II Tay-Sachs type I Tay-Sachs type II Tay-Sachs type III

Abnormal transport of enzymes results in decreased levels of several enzymes in cells and excretion of enzyme into the extracellular compartment. N-acetylglucosamine-l-phosphotransferase is an essential enzyme for the synthesis of a mannose-6-phosphate recognition marker that targets lysosomal enzymes to the lysosome. Results in progressive accumulation of glycoprotein and glycolipids.

Hernia		Hepatosplenomegaly		Corneal Clouding

Progressive disorder with multiple organ and tissue involvement and wide spectrum of clinical severity. Presents in the 1st year of life. Rapid disease progression, with death occurring before 5 years of age.

Skeletal deformities

Coarse facial features

Hearing loss/deafness

Developmental delay

Rapid, progressive psychomotor deterioration

Recurrent and persistent upper respiratory tract infections

Cardiac murmur to cardiac valvular and ischemic myocardial damage

Mild corneal clouding

Severe gingival hypertrophy

Hepatosplenomegaly

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1. Clarke LA. Clinical diagnosis of lysosomal storage diseases. In: Applegarth DA, Dimmick JE, JG Hall. Organelle Diseases: Clinical Features, Diagnosis, Pathogenesis and Management. London: Chapman and Hall 1997; 37-71.

2. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of Lysosomal Storage Disorders. JAMA. 1999; 281: 249-254.

3. Lee, Grace Y., et al. “I-Cell Disease (Mucolipidosis Type II)” www.emedicine.com/ped/topic1150.htm. Updated December 12, 2003. Accessed July 2004.

4. Robinson C, et al. The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. J. Inherit. Metab.Dis. 25 (2002) 681-693.