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Isolated methylmalonic acidemia: a case report.

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Summary

Isolated methylmalonic acidemia (AMR) is a metabolic disorder caused by a methylmalonyl-CoA mutase enzyme deficit. Early diagnosis and genetic confirmation are crucial for managing this condition in infants.

Keywords:
gene MUThyperammoniemiamethylmalonic acidemiamethylmalonyl-CoA mutasevitamin B12

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Isolated methylmalonic acidemia (AMR) is an inherited metabolic disorder.
  • It results from a deficiency in the methylmalonyl-CoA mutase enzyme.
  • AMR is characterized by elevated methylmalonic acid levels without hyperhomocysteinemia.

Observation:

  • A ten-month-old infant presented with metabolic acidosis, hyperammonemia, and ketosis.
  • Clinical signs included vomiting, dehydration, and developmental delay.
  • Symptoms were unresponsive to vitamin B12 administration.

Findings:

  • Organic acid chromatography revealed elevated methylmalonic acid levels.
  • Molecular genetic analysis confirmed a deficit in the methylmalonyl-CoA mutase enzyme.
  • The genetic abnormality was identified in the MUT gene.

Implications:

  • This case highlights the importance of suspecting AMR in infants with unexplained metabolic acidosis and hyperammonemia.
  • Accurate diagnosis relies on biochemical testing and molecular genetics.
  • Understanding the genetic basis of AMR is essential for diagnosis and potential future therapies.