Bone Abstracts

Objectives: Metabolic bone disease of prematurity (MBDP) is a multi-factorial condition characterised by a deficiency of calcium (Ca) and phosphate (PO4) mineral for incorporation into the organic bone matrix. Given the lack of clear guidelines, we conducted a survey across the United Kingdom of current practices, inviting both neonatologists and paediatric metabolic bone disease specialists (PMBS).Methods: A web-based questionnaire survey was disseminat...

Background: Familial hypocalciuric hypercalcaemia type 3 (FHH3) is a genetically heterogenous autosomal dominant disorder caused by loss-of-function mutations in the AP2S1 gene. This gene encodes the alpha-2 subunit of the adaptor protein-2 complex, which facilitates endocytosis of plasma membrane constituents such as G-protein coupled receptors.Objective: It has been suggested that FHH3 may be associated with cognitive deficits (1). We assessed...

Background: Hypophosphatasia (HPP) is a disorder of bone mineralisation caused by deficiency of alkaline phosphatase (secondary to ALPL gene mutations), causing accumulation of inorganic pyrophosphate (PPi) thus inhibiting bone mineralisation. The perinatal form presents with severe manifestations at birth. Most severe skeletal manifestations are detectable by 20 weeks gestational age (GA) anomaly scan, and antenatal care within the UK practices routine detailed anoma...