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[Studies on the state of vitamins B1, B2 and B6 in Down's syndrome]
Insights
This study found a vitamin B1 metabolism disturbance in children with Down syndrome, identified using the transketolase test. This metabolic issue was not observed in the control group.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Context:
- Down syndrome (Mongolism) is a genetic disorder associated with various metabolic alterations.
- Metabolic parameters, including vitamin B1 (thiamine) related enzymes, were investigated in children with Down syndrome.
Purpose:
- To analyze metabolic parameters in children with Down syndrome compared to controls.
- To investigate potential disturbances in vitamin B1 metabolism in individuals with Down syndrome.
Summary:
- Metabolic parameters including vitamin B1 activating coefficient (ETK), vitamin B2 (EGR), vitamin B6 (EGOT), and other biochemical markers were analyzed in 90 children with Down syndrome and 20 controls (ages 0-16).
- A significant disturbance in vitamin B1 metabolism was identified in children with Down syndrome, confirmed by the transketolase test.
- Correlations between various metabolic parameters were also explored.
Impact:
- This research provides novel evidence for a specific vitamin B1 metabolic disturbance in Down syndrome.
- Highlights the utility of the transketolase test in identifying metabolic anomalies in Down syndrome.
- Suggests potential avenues for targeted nutritional or therapeutic interventions related to vitamin B1 metabolism in Down syndrome.
Abstract:
In 110 children-between 0-16 years of age-, 90 children with Down-syndrome and 20 controls the following metabolic parameter were analyzed: ETK (vitamin-B1-activating coefficient), EGR (vitamin B2), P-5'-P, EGOT (vitamin B6), GOT, GPT, pH, K, Na, Ca, Cl, uric-acid (HS). Among some important correlations between the different parameters it could be demonstrated-for the first time to our knowledge-that in Mongoloids a disturbance of the vitamin-B1-metabolism exists, certified by the so-called transketolase-test.