Neuraminidase deficiency with beta-galactosidase deficiency
A hereditary autosomal recessive lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in protective protein/cathepsin A (PPCA). All patients have clinical manifestations typical of a lysosomal disorder, such as coarse FACIES, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated LYMPHOCYTES. Three phenotypic subtypes are recognized. The early infantile form is associated with HYDROPS FETALIS; EDEMA; ASCITES, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and rare occurrence of neurologic signs. The juvenile/adult form is characterized by MYOCLONUS; ATAXIA; ANGIOKERATOMA; INTELLECTUAL DISABILITY, neurologic deterioration, absence of visceromegaly, and long survival. The majority of reported patients belong to the juvenile/adult group and are mainly of Japanese origin. Mutations in the CTSA gene have been identified. OMIM: 256540
Also Known As:
Cathepsin A Deficiency; Cathepsin A, deficiency of; Deficiency of Cathepsin A; Galactosialidosis; Goldberg syndrome; Lysosomal Protective Protein Deficiency; Lysosomal protective protein, deficiency of; Protective protein-Cathepsin A deficiency
Networked: 165
relevant articles (3 outcomes,
15 trials/studies)
Relationship Network
Disease Context: Research Results
Related Diseases
Experts
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8. | Bonten, Erik:
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9. | d'Azzo, A:
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10. | Kuwahara, Jun:
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Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Neuraminidase deficiency with beta-galactosidase deficiency:
1. | 5'-deoxy-5'-phosphonomethyladenosine phosphateIBA
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2. | EnzymesIBA
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3. | Proteins (Proteins, Gene)FDA Link
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4. | Neuraminidase (Sialidase)IBA
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5. | beta-Galactosidase (Lactaid)IBA
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6. | Cathepsin AIBA
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7. | LipidsIBA
01/03/1986
- " In infantile GM1 gangliosidosis and I-cell disease, little GM1 and GA1 was hydrolyzed on any day of culture, while fibroblasts from patients with adult GM1 gangliosidosis, Morquio disease type B and galactosialidosis hydrolyzed the lipids at nearly normal rates. " 07/15/1992
- " Lactosylceramide-loading studies confirmed that there was a defect in the turnover of this lipid in fibroblasts from the affected patient and fetus but not from a patient with an isolated SAP-1 deficiency, or from patients with Krabbe disease, GM1 gangliosidosis or galactosialidosis. " 11/01/2007
- " In our present study, we have examined a cohort of human lipidosis cases, including Sandhoff disease, Tay-Sachs disease, metachromatic leukodystrophy, beta-galactosialidosis and adrenoleukodystrophy, for the expression of alpha- and beta-synucleins and the associated lipid storage levels. "
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8. | chitotriosidaseIBA
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9. | SynucleinsIBA
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10. | CDw17 antigen (lactosylceramide)IBA
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Therapies and Procedures