Metabolic defect: alpha-fucosidase deficiency Other glycan degradation diseases: aspartylglucosaminuria | fucosidosis: type II | mannosidosis | sialidosis: type I, type II

Current page: Fucosidosis - type I 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

Enzyme deficiency results in accumulation of glycosphingolipids (primarily H-antigen) in the central nervous system and peripheral tissues.

Hepatosplenomegaly		Macroglossia

Progressive neurologic deterioration begins after the 1st year of life, accompanied by spasticity, tremors, and mild skeletal changes. Lungs, heart, liver, pancreas, kidneys, cornea, skin, mucous-secreting glands, lymphocytes, peripheral nerves, and spleen are affected. Somatic features are similar to those in MPS.

Type I (the infantile form) makes up 60% of all fucosidosis cases. It has an early and rapid course, with death occurring around 5 years of age.

Psychomotor retardation

Beginning to fall off milestones around end of 1st year of life

Weakness and hypotonia initially, with eventual spastic quadriplegia

Seizures

Progressive mental retardation

Hepatomegaly / hepatosplenomegaly

Macroglossia

Progressive impairment of gallbladder function

Brachycephalic skull

Frontal bossing

Coarse facial features

Growth retardation

Lumbar kyphosis

Joint contractures

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Chronic recurrent lung infections

Cardiomegaly

Tortuous conjunctival vessels

Slight corneal clouding

Pigmentary retinopathy

Thick skin

Hyperhydrosis

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1. Hauser SL, Longo DL, eds. Harrison’s Principles of Internal Medicine. 14th ed. New York: McGraw-Hill; 1998; p. 2175.

2. Hensyl W, ed. Stedman’s Medical Dictionary. 25th ed. Baltimore: Williams & Wilkins; 1990; p. 622.

3. OMIM. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230000. Accessed August 2004.