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Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

157
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
157
Phase II Reactions: Methylation Reactions01:17

Phase II Reactions: Methylation Reactions

181
Methylation is a phase II biotransformation process involving the attachment of a methyl group to a substrate. Enzymes known as methyltransferases orchestrate this reaction.
The mechanism of methylation unfolds in two stages. The first stage sees a methyltransferase enzyme facilitating the transfer of a methyl group from S-adenosylmethionine (SAM) to the substrate, forming S-adenosylhomocysteine (SAH). The second stage involves further metabolism of SAH into homocysteine, which can be recycled...
181

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Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
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Methylmalonic Acidemia - Matter Most Awaited!

Sunita Bijarnia-Mahay1

  • 1Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India. Bijarnia@gmail.com.

Indian Journal of Pediatrics
|April 5, 2024
PubMed
Summary

No abstract available in PubMed .

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