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J Pediatr Genet 2024; 13(01): 035-042
DOI: 10.1055/s-0041-1733949
Case-Based Review

Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (TRPM6) Gene

Geetanjali Jain
1   Military Hospital, Nasirabad, India
,
Gourab Das
2   Army Hospital (Research and Referral), New Delhi, India
,
Rakhi Malhotra
3   Department of Endocrinology, Army Hospital (Research and Referral), New Delhi, Delhi, India
,
Sateesh Ramchandran
3   Department of Endocrinology, Army Hospital (Research and Referral), New Delhi, Delhi, India
,
Nagaraja M. Phani
5   Department of Molecular Genetics, Life cell Diagnostics Pvt. Ltd., India
,
Giridharan Appaswamy
6   Life Cell Diagnostic Pvt. Ltd., Chennai, Tamil Nadu, India
,
Upasana Sridharan
6   Life Cell Diagnostic Pvt. Ltd., Chennai, Tamil Nadu, India
,
Aradhana Dwivedi
7   Department of Pediatrics, Division of Clinical Genetics, Army Hospital (Research and Referral), New Delhi, India
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Abstract

HOMG1 (hypomagnesemia 1, intestinal) or hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder of magnesium metabolism, characterized by impaired magnesium absorption. This disorder may mimic other conditions presenting with neonatal seizures. Here, we report an infant diagnosed to have hypomagnesemia with secondary hypocalcemia due to novel variants in TRPM6 gene.

Keywords

hypomagnesemia - hypocalcemia - hypoparathyroidism - TRPM6

Authors' Contributions

G.J., S.R., R.M., and A.D. managed the patient and drafted the manuscript. N.M.P., G.A., U.S., and G.D. edited the manuscript and performed computational analysis.




Publikationsverlauf

Eingereicht: 28. Dezember 2020

Angenommen: 02. Juli 2021

Artikel online veröffentlicht:
31. August 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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