Total hexosaminidase deficiency
Total Hexosaminidase Deficiency[edit | edit source]
Total hexosaminidase deficiency is a rare genetic disorder characterized by the absence or severe reduction of hexosaminidase enzyme activity. This condition leads to the accumulation of certain lipids in the body, causing progressive neurological damage.
Pathophysiology[edit | edit source]
Hexosaminidases are enzymes that play a crucial role in the degradation of glycosphingolipids. In total hexosaminidase deficiency, both hexosaminidase A and B are deficient, leading to the accumulation of GM2 gangliosides in the nerve cells. This accumulation results in the progressive destruction of nerve cells, particularly in the brain and spinal cord.
Genetics[edit | edit source]
Total hexosaminidase deficiency is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disease. The genes responsible for encoding hexosaminidase A and B are located on chromosome 15.
Clinical Features[edit | edit source]
The symptoms of total hexosaminidase deficiency typically appear in infancy and may include:
- Developmental delay
- Muscle weakness
- Loss of motor skills
- Seizures
- Vision and hearing loss
- Cherry-red spot on the retina
Diagnosis[edit | edit source]
Diagnosis is usually made through a combination of clinical evaluation, family history, and laboratory tests. Enzyme assay tests can measure the activity of hexosaminidase A and B in the blood or tissues. Genetic testing can confirm mutations in the HEXA and HEXB genes.
Treatment[edit | edit source]
Currently, there is no cure for total hexosaminidase deficiency. Treatment is supportive and focuses on managing symptoms and improving quality of life. This may include physical therapy, medications to control seizures, and nutritional support.
Research[edit | edit source]
Research is ongoing to find effective treatments for total hexosaminidase deficiency. Approaches being explored include gene therapy, enzyme replacement therapy, and substrate reduction therapy.
See Also[edit | edit source]
==
NIH genetic and rare disease info[edit source]
Total hexosaminidase deficiency is a rare disease.
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