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Related Experiment Videos

Renal tubular dysfunction in methylmalonic acidaemia.

C T D'Angio1, M J Dillon, J V Leonard

  • 1Department of Child Health, Hospital for Sick Children, London, UK.

European Journal of Pediatrics
|February 1, 1991
PubMed
Summary
This summary is machine-generated.

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Methylmalonic acidaemia often impairs kidney function, causing reduced glomerular filtration and urine concentrating ability. These renal tubular abnormalities are linked to tubulo-interstitial nephritis.

Area of Science:

  • Nephrology
  • Medical Genetics
  • Biochemistry

Background:

  • Methylmalonic acidaemia is an inherited metabolic disorder.
  • Vitamin B12 is a cofactor for methylmalonyl-CoA mutase, an enzyme involved in this pathway.
  • Some patients with methylmalonic acidaemia do not respond to vitamin B12 therapy.

Purpose of the Study:

  • To assess renal tubular function in patients with methylmalonic acidaemia unresponsive to vitamin B12.
  • To investigate the relationship between renal dysfunction and the underlying metabolic disorder.

Main Methods:

  • Assessment of renal tubular function in seven patients.
  • Evaluation of urine concentrating ability, glomerular filtration rate (GFR), fractional excretion of electrolytes (sodium, potassium), and phosphate reabsorption.

Related Experiment Videos

  • Investigation of urinary acidification and hormonal profiles (renin, aldosterone).

    • Main Results:

    • Five patients showed impaired urine concentrating ability and reduced GFR.
    • Abnormalities in tubular handling of sodium, potassium, and phosphate were observed.
    • Two patients exhibited defects in urinary acidification, with some cases suggesting type 4 renal tubular acidosis.
    • Renal dysfunction and tubular abnormalities were common and likely secondary to tubulo-interstitial nephritis.

    Conclusions:

    • Decreased renal function and tubular abnormalities are frequent in methylmalonic acidaemia.
    • These findings are often secondary to tubulo-interstitial nephritis.
    • Impaired concentrating ability and acidification contribute to metabolic decompensation.