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Aya Abu-El-Haija1, Bryce A Mendelsohn2, Jacque L Duncan3

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This summary is machine-generated.

Cobalamin D deficiency (cblD) is a rare metabolic disorder. This case report details the presentation, treatment, and complications of an infant with the combined cblD subtype, highlighting similarities to cobalamin C disorder.

Keywords:
Cobalamin DHomocystinuriaMethylmalonic aciduriacblD combined

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Cobalamin D deficiency (cblD) is a rare inherited metabolic disorder affecting vitamin B12 metabolism.
  • It can manifest as isolated homocystinuria, isolated methylmalonic aciduria, or a combined form (cblD-combined).
  • The cblD-combined subtype is exceedingly rare, with limited documented cases and poorly described clinical features.

Purpose of the Study:

  • To present the eighth reported case of the cblD-combined subtype.
  • To provide a detailed account of the clinical presentation, diagnostic findings, and management of this rare disorder.
  • To enhance understanding of cblD-combined by comparing it to the more common cobalamin C disorder (cblC).

Main Methods:

  • Case report of an infant with cblD-combined identified via newborn screening.
  • Description of clinical symptoms, diagnostic workup including brain imaging and ophthalmological examination.
  • Documentation of treatment interventions and patient outcomes.

Main Results:

  • The patient presented with lethargy and poor oral intake at 8 days of life.
  • Despite early treatment with dextrose, folinic acid, hydroxocobalamin, and betaine, the infant developed abnormal brain imaging and macular atrophy.
  • Global developmental delay was observed, indicating significant disease complications.

Conclusions:

  • This case underscores the severe potential complications of cblD-combined, even with early intervention.
  • The clinical presentation and disease course share similarities with cobalamin C disorder (cblC).
  • Detailed case descriptions are crucial for improving the diagnosis and management of rare metabolic disorders like cblD-combined.