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Glycerol kinase deficiency has two main causes.. The first cause is isolated enzyme deficiency. The enzyme glycerol kinase is encoded by the X-chromosome in humans. [8] It acts as a catalyst in the phosphorylation of glycerol to glycerol-3-phosphate which plays a key role in formation of triacylglycerol (TAG) and fat storage.
Hyperglycerolemia, also known as glycerol kinase deficiency (GKD), is a genetic disorder where the enzyme glycerol kinase is deficient resulting in a build-up of glycerol in the body. Glycerol kinase is responsible for synthesizing triglycerides and glycerophospholipids in the body. Excess amounts of glycerol can be found in the blood and/ or ...
Because there is no treatment for Krabbe disease, management of the condition is typically supportive and aimed at alleviating symptoms. Frequent evaluation is encouraged to anticipate the onset of and preparation for, certain symptoms. [5] Physical therapy can help to alleviate motor difficulties and increase strength, mobility, and ...
Another factor affecting the treatment response is the generation of antibodies against the infused enzyme, which is particularly severe in Pompe infants who have a complete deficiency of the acid alpha-glucosidase. [25] Immune tolerance therapy to eliminate these antibodies has improved the treatment outcome. [26]
Plummer–Vinson syndrome (also known as Paterson–Kelly syndrome [1] or Paterson–Brown-Kelly syndrome in the UK [2]) is a rare disease characterized by dysphagia (difficulty swallowing), iron-deficiency anemia, glossitis (inflammation of the tongue), cheilosis (cracking at the corners of the mouth), and esophageal webs (thin membranes in the esophagus that can cause obstruction). [1]
The Mayo Clinic diet, a program that adheres to this notion, was developed by medical professionals based on scientific research, so you can trust that this program is based on science, and not ...
Feb. 15—ROCHESTER — Mayo Clinic explains its decision to not treat out-of network Medicare Advantage patients is solely about "capacity" versus lower reimbursement rates. "Mayo simply does not ...
In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care was simply management of complications. In the past twenty years, new medications, enzyme replacement, gene therapy, and organ transplantation have become available and beneficial for many ...