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Don't forget methylmalonic acid quantification in symptomatic exclusively breast-fed infants
L Van Noolen1, M A Nguyen-Morel2, P Faure1
1Département de Biochimie, Toxicologie et Pharmacologie, Institut de Biologie et Pathologie, CHU Grenoble, Grenoble, France.
European Journal of Clinical Nutrition
|May 1, 2014
Summary
Vitamin B12 deficiency in infants can cause severe health issues. Early diagnosis via urinary methylmalonic acid testing is crucial for prompt treatment and improved outcomes.
Area of Science:
- Pediatrics
- Nutritional Science
- Hematology
Background:
- Vitamin B12 is essential for infant development.
- Deficiency can manifest with significant hematological and neurological symptoms.
- Maternal vitamin B12 deficiency can impact exclusively breast-fed infants.
Observation:
- Two cases of exclusively breast-fed infants presented with severe clinical signs of vitamin B12 deficiency.
- Mothers of affected infants were asymptomatic but later diagnosed with pernicious anemia.
- Infants showed grossly elevated urinary methylmalonic acid levels.
Findings:
- Urinary methylmalonic acid quantification is a key diagnostic tool for infant vitamin B12 deficiency.
- Prompt treatment based on diagnosis led to rapid clinical improvement in infants.
- Asymptomatic maternal pernicious anemia was the source of deficiency in breast-fed infants.
Implications:
- Highlights the critical need for screening infants with suggestive symptoms.
- Emphasizes the importance of assessing maternal vitamin B12 status in cases of infant deficiency.
- Underscores the efficacy of methylmalonic acid testing for early and accurate diagnosis in infants.
