An infant with hypercalcemia and hyperammonia: inborn error of metabolism or not? Answers

Pediatr Nephrol. 2019 Feb;34(2):251-252. doi: 10.1007/s00467-018-4022-3. Epub 2018 Jul 19.

Authors

Arife Uslu Gökceoğlu¹, Medine Ayşin Taşar², Zahide Yalaki², Abdullah Güneş², Abdullatif Bakır²

Affiliations

¹ Ankara Training and Research Hospital, Ankara, Turkey. [email protected].
² Ankara Training and Research Hospital, Ankara, Turkey.

PMID: 30027358
DOI: 10.1007/s00467-018-4022-3

No abstract available

Keywords: Distal renal tubular acidosis; Hyperammonia; Hypercalcemia.

MeSH terms

Acidosis, Renal Tubular / complications
Acidosis, Renal Tubular / diagnosis*
Acidosis, Renal Tubular / genetics
Acidosis, Renal Tubular / therapy
Administration, Oral
Ammonia / blood
Diagnosis, Differential
Exome Sequencing
Female
Fluid Therapy
Food Intolerance / etiology*
Food Intolerance / therapy
Humans
Hyperammonemia / blood
Hyperammonemia / etiology*
Hyperammonemia / therapy
Hypercalcemia / blood
Hypercalcemia / etiology*
Hypercalcemia / therapy
Infant
Metabolism, Inborn Errors / blood
Metabolism, Inborn Errors / complications
Metabolism, Inborn Errors / diagnosis
Potassium Citrate / administration & dosage
Sodium Bicarbonate / administration & dosage
Treatment Outcome
Vacuolar Proton-Translocating ATPases / genetics*
Weight Gain / drug effects

Substances

Ammonia
Sodium Bicarbonate
ATP6V0A4 protein, human
Vacuolar Proton-Translocating ATPases
Potassium Citrate