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Updated: Jun 12, 2026
Biochemical Measurement of Neonatal Hypoxia
Published on: August 24, 2011
Primary hyperoxaluria in a compound heterozygote infant
Juan Mayordomo-Colunga1, Debora Riverol, Eduardo Salido
1Pediatric Nephrology, Department of Pediatrics, Hospital Universitario Central de Asturias & University of Oviedo, Oviedo, Spain. jmcolunga@hotmail.com
Insights
Infantile primary hyperoxaluria type 1 (PH1) is a severe genetic disorder. Early diagnosis and recognition of nephrocalcinosis are crucial for managing this rare condition in infants.
Area of Science:
- Genetics
- Metabolic Disorders
- Pediatric Nephrology
Background:
- Primary hyperoxaluria type 1 (PH1) is a rare genetic metabolic disorder affecting glyoxylate metabolism in the liver.
- Infantile presentations of PH1 are uncommon and frequently lead to rapid progression to end-stage renal failure.
Observation:
- A 4-month-old infant presented with acute renal failure and nephrocalcinosis.
- Genetic analysis confirmed compound heterozygosity for mutations in the alanine-glyoxylate aminotransferase gene, indicative of PH1.
Findings:
- The infant's condition deteriorated rapidly, resulting in death.
- The case highlights the severe prognosis of infantile PH1, especially with compound heterozygous mutations.
Implications:
- This case underscores the diagnostic significance of nephrocalcinosis and urolithiasis in infantile PH1.
- Early identification and management strategies are critical for improving outcomes in severe pediatric kidney diseases.
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.
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