GAUCHER DISEASE (GD) - TYPE 2

Gaucher Disease, Acute Neuronopathic Type; Gaucher Disease, Infantile Cerebral; Gaucher Disease - Type 2; Gaucher Syndrome Type 2; GD2

Gaucher Disease (GD) is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. In GD type 2, liver and spleen enlargement are apparent by three months of age. Children have extensive and progressive brain damage and usually die by two years of age. All individuals with GD exhibit a deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and recycling of glucocerebroside. The buildup of this fatty material within cells prevents the cells and organs from functioning properly. GD is one of several lipid storage diseases.

Diagnostic testing: The diagnosis of GD relies on demonstration of deficient enzyme activity in peripheral blood leukocytes or other nucleated cells. Identification of two disease-causing alleles in GBA, the only gene known to be associated with GD, provides additional confirmation of the diagnosis but not in lieu of biochemical testing. Molecular genetic testing using sequence analysis identifies mutations in the majority of affected individuals.

Blood chemistry testing demonstrating a deficit in the enzymatic activity of glucocerebrosidase is definitive genetic testing for mutations in the GBA gene.

Physical findings: Individuals with this impairment may have:

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  Seizures;

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  Skeletal irregularities;

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  Delayed growth and physical development;

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  Eye movement disorders;

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  Cognitive problems;

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  Poor coordination;

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  Spasticity (rigid muscle tone);

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  Poor ability to suck and swallow;

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  Enlarged liver and spleen (hepatosplenomegaly);

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  Skin abnormalities;

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  Respiratory difficulties; and

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  Blood disorders.

ICD-9: 272.7

ICD-10: E75.22

The prognosis for children with GD type 2 with onset before age two years is limited psychomotor development and a rapidly progressive course with death by age two to four years.

There is no effective treatment for the severe brain damage that may occur in children with GD type 2.

Suggested MER for Evaluation:

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  Enzyme assay level of glucocerebrosidase activity of less than 15%, physical findings of hepatosplenomegaly, and evidence of progressive neurodevelopmental delay;

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  Results of blood chemistry testing; and

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  Genetic testing for mutations in the GBA gene.

Suggested Listings for Evaluation:

REMARKS

Catastrophic congenital abnormalities or disease.