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Progressive renal insufficiency in methylmalonic acidemia
K H Molteni1, T D Oberley, J A Wolff
1Department of Pediatrics, University of Wisconsin School of Medicine, Madison 53792.
Pediatric Nephrology (Berlin, Germany)
|May 1, 1991
Summary
Methylmalonic acidemia can cause kidney damage even with a low-protein diet. This study suggests lower metabolite levels may be needed to prevent chronic tubulointerstitial nephropathy (CTIN) in patients.
Area of Science:
- Biochemistry
- Nephrology
- Metabolic Disorders
Background:
- Methylmalonic acidemia (MMA) is an inborn error of propionate metabolism.
- Treatment involves a low-protein diet to reduce methylmalonic acid (MMA) levels.
- Renal dysfunction is a recognized complication, with tubulointerstitial disease noted in prior studies.
Observation:
- An 18-year-old patient with mut- form methylmalonic acidemia developed renal dysfunction despite dietary management.
- Renal biopsy confirmed tubulointerstitial injury.
- The patient lacked risk factors for typical chronic tubulointerstitial nephropathy (CTIN).
Findings:
- Methylmalonyl-CoA and its precursors (propionyl-CoA, odd-chain fatty acids) are implicated in causing CTIN.
- This suggests a direct nephrotoxic effect of these metabolites.
Implications:
- Preventing renal injury in methylmalonic acidemia may necessitate stricter metabolite control than previously thought.
- Lowering tissue levels of MMA and its precursors might be crucial for renal health.
- This highlights the importance of monitoring kidney function in these patients.