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Related Experiment Videos

Chronic renal failure in methylmalonic acidaemia.

J H Walter1, A Michalski, W M Wilson

  • 1Department of Child Health, Institute of Child Health, London, United Kingdom.

European Journal of Pediatrics
|January 1, 1989
PubMed
Summary

Non-vitamin B12 responsive methylmalonic acidaemia often impairs kidney function, with reduced glomerular filtration rates common in patients. Severity and age correlate with decreased kidney filtration capacity.

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Area of Science:

  • Nephrology
  • Metabolic Disorders
  • Biochemistry

Background:

  • Methylmalonic acidaemia is a metabolic disorder.
  • Non-vitamin B12 responsive forms present unique clinical challenges.
  • Renal function is a critical aspect of patient management.

Observation:

  • Investigated renal function in 12 patients with non-vitamin B12 responsive methylmalonic acidaemia.
  • Assessed glomerular filtration rates (GFR) and plasma creatinine levels.
  • Examined the relationship between disease severity, age, and renal function.

Findings:

  • Eight of 12 patients exhibited reduced GFR.
  • Elevated plasma creatinine was observed only in patients with GFR < 40 ml/min/1.73 m2.
  • GFR reduction correlated with patient age and disease severity.

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  • Four patients showed increased plasma urate, potentially secondary to renal disease.

    • Implications:

    • Early detection and monitoring of renal impairment are crucial for managing methylmalonic acidaemia.
    • Understanding the factors affecting GFR helps predict disease progression.
    • Further research into the link between methylmalonic acidaemia and renal urate handling is warranted.