Niemann Pick type C is a disease of lysosomal lipid accumulation: patients with this disease are unable to metabolise lipids (e.g. cholesterol) properly, and they tend to accumulate lipids in...
Gaucher disease is a rare lysosomal storage disease with autosomal recessive transmission. Its prevalence in the general population is between 1:57,000 and 1:111,000. The disease is due to the deficiency...
TYPE 1 TYROSINEMIA Type 1 tyrosinemia is an inherited metabolic disease characterized by the inability of the individual affected to metabolize a specific amino acid, tyrosine. Amino acids are the...
Urea Cycle Defects are a group of inherited metabolic diseases, characterized by deficiencies in enzymes and transporters involved in the urea cycle, a metabolic pathway dedicated to the transformation of...
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