Endocrine Abstracts

Hypophosphatasia (HPP) is a rare inborn metabolic disorder due to ALPL gene (1p36.12) mutations leading to deficient activity of the Tissue Non-Specific Alkaline Phosphatase (TNSALP), a homodimeric cell surface phosphohydrolase expressed in multiple tissues. Autosomal recessive or dominant inheritance of more than 300 different loss-of-function mutations cause accumulation of TNSALP substrates, including inorganic pyrophosphate (PPi), a potent inhibitor of mineralization, Pyri...

Mesenchymal Stem Cells (MSC) are the source of regeneration of musculoskeletal tissues. Stem cells (SC) are rare and slowly dividing cells, situated in stem cell niches, regulated by non-stem-cell cap cells. Rare symmetric SC division regulates the SC pool. Asymmetric cell division gives rise to a transient amplifying pool (MSCTAP). The MSC niche is poorly characterized in contrast to MSCTAP and consecutive events of fate decision, commitment and secretio...

Hypophosphatasia (HPP) is a rare, inherited, metabolic disorder caused by deficient tissue-nonspecific alkaline phosphatase activity. A heterogeneous presentation in adults includes musculoskeletal symptoms, impaired physical function, and reduced health-related quality of life (HRQoL). Asfotase alfa is the only approved treatment for pediatric-onset HPP. We evaluated, in a real-world setting, the long-term effectiveness of asfotase alfa on physical function and HRQoL among ad...

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue nonspecific alkaline phosphatase (TNSALP).Methods: Baseline/pretreatment data from the Global HPP Registry were analyzed to compare HPP disease burden between adults (≥18 years of age) with skeletal manifestations (history of rickets, biopsy-proven osteomalacia, recurrent or poorly healing fractures/pseudofractures, etc; Skeletal group) ...