Metabolic defect: galactocerebrosidase deficiency Other sphingolipid degradation diseases: acid sphingomyelinase deficiency | Fabry | Farber | Gaucher: type I, type II, type III | GM1 gangliosidosis: type I, type II, type III | Tay-Sachs: type I, type II, type III | Sandhoff: type I | metachromatic leukodystrophy: type I, type II, type III

Current page: Krabbé disease 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

One of a group of genetic disorders called the leukodystrophies that affect the growth of the myelin sheath, the fatty covering on nerve fibers in the brain that acts as an insulator. All patients are deficient in the lysosomal enzyme galactocerebrosidase and show evidence of storage in the central nervous system.

Hypertonia/Ataxia		Hypertonia/Ataxia		Hypertonia/Ataxia

A rare degenerative disorder of the central and peripheral nervous systems. Symptoms vary in prevalence and severity, ranging from infantile onset to late-onset forms. The majority of cases are the infantile form and generally present with developmental delay, extreme irritability, and neurologic manifestations by 6 months of age. In late-onset patients, which can present between 6 months and 50 years of age, weakness, vision loss, and mental regression may occur.^[3]

Myoclonic seizures

Hypertonia

Irritability

Developmental delays

Loss of previously attained developmental skills

Hypersensitivity

Temperature spikes

Tremor

Decerebration

Ataxia

Spasticity

Vision loss leading to blindness

Episodes of severe vomiting

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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. National Institute of Neurological Disorders and Stroke. www.ninds.nih.gov/health_and_medical/disorders/krabbe_doc.htm Accessed July 2004.

3. Kleta, Robert, MD, PhD; Gahl, William A, MD, PhD. “Krabbe Disease.” www.genetests.org. Updated 6 June 2003. Accessed July 2004.

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

5. DL, Hauser SL, Longo DL, eds. Harrison’s Principles of Internal Medicine. 14th ed. New York: McGraw-Hill; 1998; p. 2170.