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Elevated urinary cystathionine in children can indicate enzyme defects or conditions like neuroblastoma. Pyridoxine treatment helped reduce cystathionine levels in premature infants, suggesting a role for this vitamin.
Area of Science:
- Biochemistry
- Pediatrics
- Medical Genetics
Context:
- Cystathionine is a key intermediate in methionine metabolism.
- Renal cystathionine excretion is a marker for metabolic health in children.
- Abnormal levels can be linked to various pediatric conditions.
Purpose:
- To establish baseline renal cystathionine excretion in healthy children.
- To investigate the causes and implications of pathologically increased urinary cystathionine.
- To explore the therapeutic effect of pyridoxine on cystathioninuria.
Summary:
- Isolation and identification of cystathionine enabled the determination of renal excretion in healthy children.
- Pathological urinary cystathionine levels may signal inherited enzyme defects, impaired adaptation in premature infants, or secondary conditions like neuroblastoma and liver disorders.
- Pyridoxine dependency was identified in a child with primary cystathioninuria, and treatment with pyridoxine reduced urinary cystathionine in premature newborns.
Impact:
- Provides diagnostic insights into inherited metabolic disorders and secondary conditions in pediatrics.
- Highlights the potential role of pyridoxine in managing cystathioninuria, particularly in premature infants.
- Establishes reference ranges for urinary cystathionine, aiding in the diagnosis of various pediatric diseases.
Abstract:
Isolation and identification of cystathionine were the basis for the determination of the renal cystathionine excretion in healthy children. Pathologically increased urinary levels of cystathionine may reflect either an inherited enzyme defect, or transient impaired adaptation in premature infants, or a secondary phenomenon in neuroblastoma and certain liver disorders. Pyridoxine dependency was shown in a child with primary cystathioninuria. Urinary cystathionine concentration in premature newborns decreased when treated with pyridoxine. Secondary cystathioninuria was found in biliary atresia, cytomegalovirus infection, neuroblastoma, vitamin D intoxication and hyperglycinemia.