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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.
Sucrose intolerance or genetic sucrase-isomaltase deficiency (GSID) is the condition in which sucrase-isomaltase, an enzyme needed for proper metabolism of sucrose (sugar) and starch (e.g., grains), is not produced or the enzyme produced is either partially functional or non-functional in the small intestine. All GSID patients lack fully ...
X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. [2] XLI manifests with dry, scaly skin [ 3 ] and is due to deletions [ 4 ] [ 5 ] or mutations [ 6 ] in the STS gene.
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 ...
A deficiency in digestive enzymes can also cause some types of food intolerances. Lactose intolerance is a result of the body not producing sufficient lactase to digest the lactose in milk; [25] [26] dairy foods which are lower in lactose, such as cheese, are less likely to trigger a reaction in this case.
Pellagra is a disease caused by a lack of the vitamin niacin (vitamin B 3). [2] Symptoms include inflamed skin, diarrhea, dementia, and sores in the mouth. [1] Areas of the skin exposed to friction and radiation are typically affected first. [1]