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Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings
Insights
Hyperpipecolic acidemia, a rare metabolic disorder, was diagnosed in two siblings presenting with hepatomegaly and developmental delay. A protein-restricted diet improved one sibling's pipecolic acid levels, suggesting a potential therapeutic approach.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Hyperpipecolic acidemia is a rare metabolic disorder.
- It is characterized by the accumulation of pipecolic acid in bodily fluids and tissues.
Observation:
- Two male siblings presented with a distinct set of clinical manifestations including hepatomegaly, retinopathy, developmental delay, and minor dysmorphic features.
- Elevated pipecolic acid levels were detected in serum, urine, and liver tissue.
- Automated amino acid analysis failed to detect pipecolic acid.
Findings:
- The older sibling succumbed to the condition at 18 months of age.
- The younger sibling, treated with a protein-restricted diet, showed a decrease in serum pipecolic acid levels.
- While the younger sibling remains developmentally delayed, his liver disease and retinopathy showed no apparent progression post-therapy.
Implications:
- This case highlights the diagnostic challenges of hyperpipecolic acidemia, particularly with standard automated analysis.
- A protein-restricted diet may offer a viable therapeutic strategy for managing hyperpipecolic acidemia.
- Early diagnosis and intervention are crucial for potentially mitigating disease progression in affected individuals.
Abstract:
Hyperpipecolic acidemia was diagnosed in two male siblings. Both infants had an unusual constellation of clinical findings including hepatomegaly, retinopathy, developmental delay, and several minor dysmorphic features. Pipecolic acid values were elevated in serum, urine, and in liver tissue, but none was detected using an automated amino acid analyzer. The older sibling died at 18 months of age. The younger sibling has been treated with a protein-restricted diet, with lowering of the serum pipecolic acid concentration. He is alive at 18 months of age; there has been no apparent progression in his liver disease or retinopathy since therapy began, but he remains developmentally delayed.