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Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening

Kara B Pappas1,2, Marissa Younan1, Robert Conway1

  • 1Department of Genetics, Genomics, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.

American Journal of Medical Genetics. Part A
|January 3, 2022
PubMed

Insights

Transcobalamin receptor deficiency (TCRD) appears to be a benign condition with normal growth and development in affected children. Early biochemical abnormalities normalize with treatment, suggesting TCRD may be an incidental newborn screening finding.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Transcobalamin receptor deficiency (TCRD) is a rare genetic disorder affecting vitamin B12 metabolism.
  • Newborn screening programs identify biochemical abnormalities associated with various metabolic disorders.

Purpose of the Study:

  • To describe the clinical course and outcomes of seven patients with TCRD.
  • To evaluate the significance of TCRD as identified by newborn screening.

Main Methods:

  • Retrospective case series analysis of seven patients diagnosed with TCRD.
  • Review of clinical data, growth parameters, and biochemical markers.
  • Comparison of TCRD incidence with other inborn errors of metabolism.

Main Results:

  • All seven patients exhibited normal growth and development without health issues or metabolic decompensation.
  • Biochemical abnormalities normalized following parenteral hydroxocobalamin treatment.
  • TCRD incidence appears comparable to other C3 acylcarnitine-elevating disorders.

Conclusions:

  • TCRD presents as a generally benign condition with favorable long-term outcomes in the observed cases.
  • TCRD may be considered an incidental finding on newborn screening, warranting further long-term outcome studies.

Keywords:
cobalaminhyperhomocysteinemiamethylmalonic academianewborn screeningtranscobalamin receptor deficiency

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