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Hypophosphatasia (/ ˌ h aɪ p oʊ ˈ f ɒ s f eɪ t ˌ eɪ ʒ ə /; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, [5] or Rathbun's syndrome; [1] sometimes abbreviated HPP [6]) is a rare, and sometimes fatal, inherited [7] metabolic bone disease. [8]
The radiologic picture and the laboratory findings of serum calcium, phosphate and alkaline phosphatase are important differentiating factors. Blount's disease is an important differential diagnosis because it causes knee deformities in a similar fashion to rickets namely bow legs or genu varum .
The enzyme alkaline phosphatase (ALP, alkaline phenyl phosphatase) is a phosphatase with the physiological role of dephosphorylating compounds. The enzyme is found across a multitude of organisms, prokaryotes and eukaryotes alike, with the same general function, but in different structural forms suitable to the environment they function in. Alkaline phosphatase is found in the periplasmic ...
Laboratory findings include low-normal serum calcium, moderately low serum phosphate, elevated serum alkaline phosphatase, and low serum 1,25 dihydroxy-vitamin D levels, hyperphosphaturia, and no evidence of hyperparathyroidism. [8] Hypophosphatemia decreases 2,3-bisphosphoglycerate (2,3-BPG) causing a left shift in the oxyhemoglobin curve.
Elevated alkaline phosphatase occurs when levels of alkaline phosphatase (ALP) exceed the reference range. This group of enzymes has a low substrate specificity and catalyzes the hydrolysis of phosphate esters in a basic environment. The major function of alkaline phosphatase is transporting chemicals across cell membranes. [1]
By using a desphosphorylating phosphatase, re-ligation can be avoided. [20] Alkaline phosphatases , which remove the phosphate group present at the 5′ terminus of a DNA molecule, are often sourced naturally, most commonly from calf intestine, and are abbreviated as CIP .
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 ...
Alkaline phosphatase, placental type is a membrane-bound glycosylated dimeric enzyme, also referred to as the heat-stable form, that is expressed primarily in the placenta, although it is closely related to the intestinal form of the enzyme as well as to the placental-like form. [7]