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Transcobalamin II deficiency: case report and review of the literature
Y Kaikov1, L D Wadsworth, C A Hall
1Department of Paediatrics, University of British Columbia, British Columbia Children's Hospital, Vancouver, Canada.
Insights
This study reports a rare genetic disorder, transcobalamin II deficiency, in an infant presenting with failure to thrive and anemia. Early diagnosis is crucial to prevent severe neurological complications.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Transcobalamin II (TC2) is essential for vitamin B12 absorption.
- TC2 deficiency is a rare autosomal recessive disorder.
- Vitamin B12 is vital for DNA synthesis and neurological function.
Observation:
- An infant presented with failure to thrive, diarrhea, macrocytic anemia, and low IgG at 6 weeks.
- Normal serum vitamin B12 and folate levels were observed.
- Serum cobalamin binding capacity was undetectable for transcobalamin II.
Findings:
- The infant was diagnosed with transcobalamin II deficiency.
- Parents exhibited heterozygous carrier status.
- Literature review highlights the genetic basis and clinical manifestations.
Implications:
- Early diagnosis of transcobalamin II deficiency is critical.
- Prompt treatment can prevent irreversible neurological damage.
- This case underscores the importance of biochemical screening for nutrient transport defects.
Abstract:
A male Caucasian infant presented at 6 weeks of age with failure to thrive, diarrhoea, macrocytic anaemia, and decreased IgG. He had normal serum B12 and folate levels. Serum cobalamin binding capacity showed no detectable transcobalamin II. Both parents showed levels consistent with a heterozygous state. The literature is extensively reviewed, and the importance of early diagnosis to prevent neurological dysfunction is stressed.