Match each pediatric patient's clinical presentation with the most appropriate targeted vitamin or cofactor supplementation that serves as specific therapy for their likely underlying metabolic condition.
- A 2-week-old neonate presents with lethargy, vomiting, and tachypnea. Laboratory studies show severe anion gap metabolic acidosis, hyperammonemia, and marked elevation of serum methylmalonic acid.Cobalamin (Vitamin B12)
- A 5-year-old child presents with intellectual disability, a tall and thin stature, long fingers, and recently diagnosed downward lens subluxation.Pyridoxine (Vitamin B6)
- A 3-week-old infant exhibits progressive encephalopathy, dystonia, and a distinct sweet odor to their diapers. Serum amino acid analysis reveals elevated leucine, isoleucine, and valine.Thiamine (Vitamin B1)
- A 4-month-old infant presents with hypotonia, generalized alopecia, developmental delay, and an erythematous, scaling rash around the mouth and eyes.Biotin (Vitamin B7)
Cevap
The correct pairings match each inborn error of metabolism with its corresponding deficient enzyme's targeted cofactor: Methylmalonic acidemia with Cobalamin (Vitamin B12), Homocystinuria with Pyridoxine (Vitamin B6), Maple syrup urine disease with Thiamine (Vitamin B1), and Biotinidase deficiency with Biotin (Vitamin B7).
Each clinical vignette describes a classic presentation of an inborn error of metabolism that can be treated with high-dose targeted vitamin cofactor therapy. Methylmalonic acidemia (methylmalonyl-CoA mutase deficiency) responds to cobalamin (B12); homocystinuria (cystathionine beta-synthase deficiency) to pyridoxine (B6); maple syrup urine disease (branched-chain ketoacid dehydrogenase complex deficiency) to thiamine (B1); and biotinidase deficiency to biotin (B7).
Adım Adım Çözüm
Anahtar Kavram
Many inborn errors of metabolism can be managed by administering pharmacologic doses of the specific vitamin or cofactor required by the deficient or dysfunctional enzyme.
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