title: Primary hyperoxaluria in a compound heterozygote infant.
abstract: BACKGROUND
  Primary hyperoxaluria type 1 is a rare disorder caused by a defect in the hepatic metabolism of glyoxylate. Cases presenting in infancy are very uncommon and often have a severe course leading to early end-stage renal failure.
  
  
  METHODS
  We treated a case of early presentation of primary hyperoxaluria type 1 and reviewed the relevant literature.
  
  
  RESULTS
  A 4-month-old female infant was admitted to our hospital because of acute renal failure and nephrocalcinosis. Mutational analysis of alanine-glyoxylate aminotransferase gene revealed compound heterozygosity in the infant, confirming the development of primary hyperoxaluria type 1. A few weeks later, the condition of the infant worsened during an interdialytic period and died.
  
  
  CONCLUSIONS
  Interest of this case is based on the coexistence of two mutations of alanine-glyoxylate aminotransferase gene recently reported, and it confirms the severe course of the disease when it presents in infancy. It also highlights the importance of the association of nephrocalcinosis and urolithiasis as key diagnostic manifestations of primary hyperoxaluria type 1.
authors.affiliation: Pediatric Nephrology, Department of Pediatrics, Hospital Universitario Central de Asturias & University of Oviedo, Oviedo, Spain. jmcolunga@hotmail.com
authors.forename: Juan
authors.initials: J
authors.lastname: Mayordomo-Colunga
authors.forename: Debora
authors.initials: D
authors.lastname: Riverol
authors.forename: Eduardo
authors.initials: E
authors.lastname: Salido
authors.forename: Fernando
authors.initials: F
authors.lastname: Santos
mesh_terms: D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D007223:Infant; D009397:Nephrocalcinosis / Q000209:etiology / Q000235:genetics; D000637:Transaminases / Q000235:genetics; D052878:Urolithiasis / Q000209:etiology / Q000235:genetics
chemical_list: D000637:Transaminases; C019635:Alanine-glyoxylate transaminase