hypophosphatasia

In adult years, Hypophosphatasia can occur during middle age.

The prevalence of hypophosphatasia is not known.

Radiographic features are striking though generally less severe than those found in perinatal hypophosphatasia.

There appears to be a correlation between genotype and phenotype in hypophosphatasia".

Enobia is the developer of asfotase alpha, a drug used to treat the genetic disorder hypophosphatasia.

In childhood, Hypophosphatasia's clinical expression is variable.

In the perinatal period, Hypophosphatasia is the most pernicious form of hypophosphatasia.

Pyridoxine-induced photosensitivity and hypophosphatasia.

The prevalence of severe hypophosphatasia is estimated to be 1:100,000 in a population of largely Anglo Saxon origin.

The mode of inheritance for childhood, adult, and odonto forms of hypophosphatasia can be either autosomal dominant or recessive.

Dental Findings Often, one of the first symptoms of hypophosphatasia is early loss of deciduous (baby or primary teeth) with root intact.

In radiographic examinations, perinatal hypophosphatasia is readily distinguished from even the most severe forms of osteogenesis imperfecta and congenital dwarfism.

The most sensitive substrate marker for hypophosphatasia is an increased pyridoxal 5'-phosphate (PLP) plasma level, which often correlates with disease severity.

The metabolic basis of hypophosphatasia stems from a molecular defect in the gene encoding tissue non-specific alkaline phosphatase (TNSALP).

Radiography Despite patient-to-patient variability and the diversity of radiographic findings, the X-ray is diagnostic in infantile hypophosphatasia, and can reveal the characteristic abnormalities found in other forms.

Perinatal and infantile hypophosphatasia are inherited as autosomal recessive traits with homozygosity or compound heterozygosity for two defective TNSALP alleles.

Phase 2 clinical trials of bone targeted enzyme replacement therapy have been completed for the treatment of hypophosphatasia in infants and juveniles, a phase 2 study in adults is ongoing.

These include osteogenesis imperfecta, Marfan syndrome, hemochromatosis, hypophosphatasia, glycogen storage diseases, homocystinuria, Ehlers-Danlos syndrome, porphyria, Menkes' syndrome, epidermolysis bullosa and Gaucher's disease.

HHRH Hypercalciuric Rickets Hypophosphatemic Rickets with Hypercalcemia Hypophasphatasia, Infantile Hypophasphatasia, Childhood Hypophosphatasia, Adult Pseudohypophosphatasia Hypophosphatasia is a inborn metabolic disorder of the bones characterized by skeletal defects resembling those of rickets.