Practical management of combined methylmalonicaciduria and homocystinuria.

  title={Practical management of combined methylmalonicaciduria and homocystinuria.},
  author={Debra L Smith and Olaf A F Bodamer},
  journal={Journal of child neurology},
  volume={17 5},
Combined methylmalonicaciduria and homocystinuria is a disorder of intracellular cobalamin metabolism that remains a challenge to the physician unfamiliar with the diagnosis. We have followed six patients with combined methylmalonicaciduria and homocystinuria (four males, two females, age 4.2-24 years) for a median of 6.5 years (range 4-9 years). Age at diagnosis was between 18 days and 14 months in early-onset cases (n = 4) and 15 and 19 years in late-onset cases. Predominant clinical features… CONTINUE READING

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