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  2. Galactosialidosis - Wikipedia

    en.wikipedia.org/wiki/Galactosialidosis

    Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. [2] It is caused by a mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuraminidase .

  3. Exocrine pancreatic insufficiency - Wikipedia

    en.wikipedia.org/wiki/Exocrine_pancreatic...

    Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack or reduction of digestive enzymes made by the pancreas.EPI can occur in humans and is prevalent in many conditions [1] such as cystic fibrosis, [2] Shwachman–Diamond syndrome, [3] different types of pancreatitis, [4] multiple types of diabetes mellitus (Type 1 and Type 2 diabetes), [5] advanced ...

  4. Glucose-6-phosphate dehydrogenase deficiency - Wikipedia

    en.wikipedia.org/wiki/Glucose-6-phosphate_de...

    Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, the effect is usually short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD ...

  5. Multiple sulfatase deficiency - Wikipedia

    en.wikipedia.org/wiki/Multiple_sulfatase_deficiency

    Multiple sulfatase deficiency (MSD), also known as Austin disease, [1] or mucosulfatidosis, [1] is a very rare autosomal recessive [2] lysosomal storage disease [3] caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases. [4]: 502 [5] It is similar to mucopolysaccharidosis. [6]

  6. Digestive enzyme - Wikipedia

    en.wikipedia.org/wiki/Digestive_enzyme

    Digestive enzymes take part in the chemical process of digestion, which follows the mechanical process of digestion. Food consists of macromolecules of proteins, carbohydrates, and fats that need to be broken down chemically by digestive enzymes in the mouth , stomach , pancreas , and duodenum , before being able to be absorbed into the ...

  7. Adenosine deaminase 2 deficiency - Wikipedia

    en.wikipedia.org/wiki/Adenosine_deaminase_2...

    The systemic inflammation present in DADA2 leads to this vasculopathy, with symptoms involving but not limited to skin, brain, gastrointestinal tract, and kidneys. Livedo racemosa and livedo reticularis are the most common manifestations in skin, although other symptoms such as digital necrosis , subcutaneous nodules , and non-specific rash ...