Genetic Disorders of Calcium and Phosphorus Metabolism

Assia Miller; Serina Mathew; Sneha Patel; Lawrence Fordjour; Vivian L. Chin

doi:10.3390/endocrines3010014

Endocrines (Mar 2022)

Genetic Disorders of Calcium and Phosphorus Metabolism

Assia Miller,
Serina Mathew,
Sneha Patel,
Lawrence Fordjour,
Vivian L. Chin

Affiliations

Assia Miller: Division of Pediatric Endocrinology, Department of Pediatrics, SUNY Downstate Health Sciences University, Brooklyn, NY 11203, USA
Serina Mathew: School of Medicine, SUNY Downstate Health Sciences University, Brooklyn, NY 11203, USA
Sneha Patel: School of Medicine, SUNY Downstate Health Sciences University, Brooklyn, NY 11203, USA
Lawrence Fordjour: Division of Neonatology, Department of Pediatrics, SUNY Downstate Health Sciences University, Brooklyn, NY 11203, USA
Vivian L. Chin: Division of Pediatric Endocrinology, Department of Pediatrics, SUNY Downstate Health Sciences University, Brooklyn, NY 11203, USA

DOI: https://doi.org/10.3390/endocrines3010014
Journal volume & issue: Vol. 3, no. 1
pp. 150 – 167

Abstract

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In this review, we describe genetic mutations affecting metabolic pathways of calcium and phosphorus homeostasis. Calcium and phosphorus homeostasis has tight hormonal regulation by three major hormones: vitamin D, parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23). We describe the physiology and pathophysiology of disorders, their biochemical profile, clinical characteristics, diagnostics, and treatments.

Published in Endocrines

ISSN: 2673-396X (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the endocrine glands. Clinical endocrinology
Website: https://www.mdpi.com/journal/endocrines

About the journal

Abstract

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