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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 ...
In the United States, asfotase alfa is indicated for the treatment of people with perinatal/infantile- and juvenile-onset hypophosphatasia (HPP). [5]In the European Union, asfotase alfa is indicated for long-term enzyme replacement therapy in people with paediatric-onset hypophosphatasia to treat the bone manifestations of the disease.
FDA Grants Breakthrough Therapy Designation to Asfotase Alfa for Perinatal-, Infantile- and Juvenile-Onset Hypophosphatasia (HPP) LAUSANNE, Switzerland--(BUSINESS WIRE)-- Alexion Pharma ...
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 ...
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 ...
Infantile hypophosphatasia [102] Intellectual developmental disorder with autistic features and language delay, with or without seizures Microcephaly [103] Intellectual disability, autosomal dominant Microcephaly [104] Intellectual disability, X-linked syndromic, Turner type Brachycephaly, trigonocephaly Macrocephaly or microcephaly
[8] [9] The Stenciling Principle for mineralization is particularly relevant to the osteomalacia and odontomalacia observed in hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH). The most common cause of osteomalacia is a deficiency of vitamin D, which is normally derived from sunlight exposure and, to a lesser extent, from the diet. [10]
For both XLH and hypophosphatasia, inhibitor-enzyme pair relationships function to regulate mineralization in the extracellular matrix through a double-negative (inhibiting the inhibitors) activation effect in a manner described as the Stenciling Principle.