Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/151110
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults |
Autor: | Riancho-Zarrabeitia, Leyre; Ruiz-Pérez, Victor L. CSIC ORCID; Riancho, José A. | Palabras clave: | Phosphoethanolamine ALPL Alkaline phosphatase Hypophosphatasia Mutation analysis Pyridoxal phosphate |
Fecha de publicación: | 2016 | Editor: | Elsevier | Citación: | European Journal of Internal Medicine 29: 40-45 (2016) | Resumen: | [Background]: Low serum levels of alkaline phosphatase (ALP) are a hallmark of hypophosphatasia. However, the clinical significance and the underlying genetics of low ALP in unselected populations are unclear. [Methods]: In order to clarify this issue, we performed a clinical, biochemical and genetic study of 42 individuals (age range 20-77 yr) with unexplained low ALP levels. [Results]: Nine had mild hyperphosphatemia and three had mild hypercalcemia. ALP levels were inversely correlated with serum calcium (r = - 0.38, p = 0.012), pyridoxal phosphate (PLP; r = - 0.51, p = 0.001) and urine phosphoethanolamine (PEA; r = - 0.49, p = 0.001). Although many subjects experienced minor complaints, such as mild musculoskeletal pain, none had major health problems. Mutations in ALPL were found in 21 subjects (50%), including six novel mutations. All but one, were heterozygous mutations. Missense mutations were the most common (present in 18 subjects; 86%) and the majority were predicted to have a damaging effect on protein activity. The presence of a mutated allele was associated with tooth loss (48% versus 12%; p = 0.04), slightly lower levels of serum ALP (p = 0.002), higher levels of PLP (p < 0.0001) and PEA (p < 0.0001), as well as mildly increased serum phosphate (p = 0.03). Ten individuals (24%) had PLP levels above the reference range; all carried a mutated allele. [Conclusion]: One-half of adult individuals with unexplained low serum ALP carried an ALPL mutation. Although the associated clinical manifestations are usually mild, in approximately 50% of the cases, enzyme activity is low enough to cause substrate accumulation and may predispose to defects in calcified tissues. | URI: | http://hdl.handle.net/10261/151110 | DOI: | 10.1016/j.ejim.2015.12.019 | Identificadores: | doi: 10.1016/j.ejim.2015.12.019 e-issn: 1879-0828 issn: 0953-6205 |
Aparece en las colecciones: | (IIBM) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
accesoRestringido.pdf | 15,38 kB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
SCOPUSTM
Citations
56
checked on 16-abr-2024
WEB OF SCIENCETM
Citations
52
checked on 29-feb-2024
Page view(s)
359
checked on 27-abr-2024
Download(s)
95
checked on 27-abr-2024
Google ScholarTM
Check
Altmetric
Altmetric
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.