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Perinatal and infantile hypophosphatasia are inherited as autosomal recessive traits with homozygosity or compound heterozygosity for two defective TNSALP alleles. The mode of inheritance for childhood, adult, and odonto forms of hypophosphatasia can be either autosomal dominant or recessive. Autosomal transmission accounts for the fact that ...
X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in that vitamin D supplementation does not cure it.
Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood. [1] Symptoms may include weakness, trouble breathing, and loss of appetite. [1]
Hypophosphatasia is caused by a genetic defect of tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme that plays a role in bone mineralization. Asfotase alfa is a recombinant glycoprotein that contains the catalytic domain (the active site) of TNSALP. It is thus a form of enzyme replacement therapy. [5] [12]
Mutations in the ALPL gene lead to varying low activity of the enzyme tissue-nonspecific alkaline phosphatase (TNSALP or TNAP) resulting in hypophosphatasia (HPP). [21] There are different clinical forms of HPP which can be inherited by an autosomal recessive trait or autosomal dominant trait, [18] the former causing more severe forms of the ...
In contrast, low levels of ALP is found in hypothyroidism, pernicious anemia, zinc deficiency, and hypophosphatasia. [6] ALP activity is significantly increased in the third trimester of pregnancy. [11] This is due to increased synthesis from the placenta as well as increased synthesis in the liver induced by large amounts of estrogens.
This is a shortened version of the third chapter of the ICD-9: Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders.It covers ICD codes 240 to 279.The full chapter can be found on pages 145 to 165 of Volume 1, which contains all (sub)categories of the ICD-9.
Hypophosphatasia, infantile; Hypophosphatasia; Hypophosphatemic rickets; Hypopigmentation oculocerebral syndrome Cross type; Hypopituitarism micropenis cleft lip palate; Hypopituitarism postaxial polydactyly; Hypopituitarism; Hypopituitary dwarfism; Hypoplasia hepatic ductular; Hypoplasia of the tibia with polydactyly; Hypoplastic left heart ...