Fabry’s Disease or Hereditary Dystopic Lipidosis: Causes, Risk Factors, Symptoms, Treatment

Fabry's disease is also known as hereditary dystopic lipidosis, GLA deficiency and alpha-galactosidase A deficiency. Fabry's disease is a rare genetic disorder which comes from...

Metachromatic Leukodystrophy (MLD) or Arylsulfatase A Deficiency: Causes, Symptoms, Treatment

We can come across various neurodegenerative disorders in individuals who get affected by it and present with varying degrees of symptoms. One such neurodegenerative...

C1 Esterase Inhibitor Deficiency: Signs, Symptoms, Etiology, Investigations, Treatment

A genetic change in the C1 inhibitor gene on chromosome 11 causes C1 inhibitor deficiency. C1 inhibitor deficiency attacks are often misdiagnosed for anaphylaxis...
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