ESPE Abstracts

Background: FHHNC is an autosomal recessive disorder caused by mutations in either claudin 19 or claudin 16. This is a rare disorder of magnesium metabolism with fewer than 400 reported cases throughout the literature. It is also a somewhat underdiagnosed disorder, not being commonly observed.Case presentation: Patient was a 2 years old female who was incidentally noted to have nephrocalcinosis as part of evaluation for ...

Background: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a newly reported inborn error of metabolism caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). TRNT1 mutations cause a complex multisystem disease leading to manifestations in most organs. We here described the effect of growth hormone (GH) treatment on short stature in two siblings with TRNT1 deficiency.Case p...