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Related Experiment Video

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Cobalamin C defect presenting as severe neonatal hyperammonemia.

Diego Martinelli¹, Andrea Dotta, Laura Massella

¹Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy. diego.martinelli@opbg.net

European Journal of Pediatrics

|December 15, 2010

Summary

This summary is machine-generated.

Cobalamin C defect, a metabolic disorder, can mimic classical methylmalonic aciduria in newborns. This case highlights successful treatment of neonatal encephalopathy with hyperammonemia using peritoneal dialysis.

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Area of Science:

Biochemistry
Genetics
Pediatric Medicine

Background:

Cobalamin C (Cbl-C) defect is the most common inherited disorder of cobalamin metabolism, blocking the synthesis of active methylcobalamin and adenosylcobalamin.
This leads to methylmalonic acid and homocysteine accumulation, impacting methionine synthesis.
Clinical presentation varies, often differing from classical methylmalonic aciduria.

Observation:

A patient with Cbl-C defect presented with neonatal encephalopathy, severe hyperammonemia, and ketoacidosis.
This presentation mimicked classical methylmalonic aciduria, which typically involves metabolic encephalopathy with hyperammonemia and ketoacidosis in the neonatal period.
The patient received successful treatment with peritoneal dialysis.

Findings:

The Cbl-C defect patient's acute presentation resembled classical methylmalonic aciduria.
This case expands the differential diagnosis for neonatal hyperammonemia.
Peritoneal dialysis proved an effective treatment modality for this severe presentation.

Implications:

This case broadens the understanding of Cbl-C defect's clinical spectrum.
It emphasizes the need to consider Cbl-C defect in the differential diagnosis of neonatal hyperammonemia with ketoacidosis.
Successful management with peritoneal dialysis offers a potential therapeutic approach for similar cases.