RT Journal Article
T1 Hypophosphatasia: A Unique Disorder of Bone Mineralization.
A1 Villa-Suárez, Juan Miguel
A1 García-Fontana, Cristina
A1 Andújar-Vera, Francisco
A1 González-Salvatierra, Sheila
A1 de Haro-Muñoz, Tomás
A1 Contreras-Bolívar, Victoria
A1 García-Fontana, Beatriz
A1 Muñoz-Torres, Manuel
K1 TNSALP
K1 asfotase alfa
K1 genotype-phenotype
K1 hypophosphatasia
K1 pyridoxal-5′-phosphate
AB Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits high clinical variability largely due to the high allelic heterogeneity of the ALPL gene. HPP is characterized by multisystemic complications, although the most common clinical manifestations are those that occur in the skeleton, muscles, and teeth. These complications are mainly due to the accumulation of inorganic pyrophosphate (PPi) and pyridoxal-5'-phosphate (PLP). It has been observed that the prevalence of mild forms of the disease is more than 40 times the prevalence of severe forms. Patients with HPP present at least one mutation in the ALPL gene. However, it is known that there are other causes that lead to decreased alkaline phosphatase (ALP) levels without mutations in the ALPL gene. Although the phenotype can be correlated with the genotype in HPP, the prediction of the phenotype from the genotype cannot be made with complete certainty. The availability of a specific enzyme replacement therapy for HPP undoubtedly represents an advance in therapeutic strategy, especially in severe forms of the disease in pediatric patients.
YR 2021
FD 2021-04-21
LK http://hdl.handle.net/10668/17676
UL http://hdl.handle.net/10668/17676
LA en
DS RISalud
RD May 10, 2025