Abstract
New homozygous mutation in ALPL gene in Saudi patient with infantile hypophosphatasia
Highlights
Hypophosphatasia (HPP) [Online Mendelian Inheritance in Man (OMIM) 146300, 241500 and 241510] is a rare metabolic disease defined by a deficiency of serum tissue nonspecific alkaline Phosphatase (TNSALP)
Discussion an Hypophosphatasia is highly variable in its clinical symptoms and signs d is thought to reflect the severity of the mutation in the alkaline phosphatase livertype (ALPL) gene and and depending on the clinical form. which can range from stillbirth with no mineralized bone to early loss of teeth in late adulthood, but with no bone symptoms [8,9]
Patients with severe forms suffer from respiratory failure, which is the main cause of death. clinical characteristics of infantile type of HPP are respiratory complications, premature craniosynostosis, demineralization,rachitic changes in the metaphyses, hypercalcemia, shortstature, and elevated serum concentrations of calcium and phosphorus, and low serum ALP enzyme activity helps differentiate HPP from other conditions
Summary
Hypophosphatasia (HPP) [Online Mendelian Inheritance in Man (OMIM) 146300, 241500 and 241510] is a rare metabolic disease defined by a deficiency of serum tissue nonspecific alkaline Phosphatase (TNSALP). It was first described in 1948 (Rathbun 1948) and has a variable clinical presentation. Seven forms have been reported based primarily on the age at which skeletal lesions are discovered [1]. Perinatal HHP: associated with profound inactivity of alkaline phosphatase and markedly impaired mineralization with clinically apparent skeletal deformities and pathognomonic radiographic changes with rapidly progressive clinical course. In other cases, affected newborns pass away from respiratory failure in several days
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