@entity1272 due to two novel XXXX mutations.

@entity3747 @entity1 @entity410 @entity2399 @entity31566 @entity1272 @entity3873 @entity261 @entity2265 @entity4959 @entity460 @entity461 @entity1760
BACKGROUND: Although most @entity3747 with hypomagenesemia in the neonatal period is due to transient @entity261 , @entity1760 channel defects should also be considered. CASE: We report a case of persistent @entity1272 in an 8-day-old Hispanic male who presented with generalized @entity410 . He was initially found to have @entity1272 , @entity3747 , @entity2265 and normal @entity461 . Serum @entity460 normalized with administration of @entity3873 and @entity4959 . Serum @entity1760 improved with oral @entity2399 . However, 1 week after @entity1760 was discontinued, serum @entity1760 declined to 0.5 mg/dL. @entity1760 supplementation was immediately restarted, and periodic @entity410 activity resolved after serum @entity1760 concentration was maintained above 0.9 mg/dL. The @entity1 was eventually weaned off oral @entity460 and @entity3873 with persistent normocalemia. However, supraphysiologic oral @entity1760 doses were necessary to prevent @entity410 and maintain serum @entity1760 at the low limit of normal. METHODS AND RESULTS: As his clinical presentation suggested primary renal @entity1760 wastage, @entity31566 gene mutations were suspected; subsequent genetic testing revealed the @entity1 to be compound heterozygous for @entity31566 mutations. CONCLUSION: Two novel @entity31566 mutations are described with a new geographic and ethnic origin. This case highlights the importance of recognizing disorders of @entity1760 imbalance and describing new genetic mutations.
