Hypomagnesemia 1, Intestinal

Alternative Names

  • Homg1
  • Homg
  • Hypomagnesemia with Secondary Hypocalcemia
  • HSH
  • Hypomagnesemic Tetany
  • Hypomagnesemia, Intestinal, with Secondary Hypocalcemia
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

602014

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9q21.13

Description

Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder characterized by very low serum magnesium levels. Hypocalcemia is a secondary consequence of parathyroid failure and parathyroid hormone resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
602014.1United Arab EmiratesMaleNoYes Hypomagnesemia; Seizures... NM_001177310.1:c.2983dupHomozygousAutosomal, RecessiveAl Hussein et al. 2019
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