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Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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...
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Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced...
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Cofactors and Coenzymes01:27

Cofactors and Coenzymes

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Enzymes require additional components for proper function. There are two such classes of molecules: cofactors and coenzymes. Cofactors are metallic ions and coenzymes are non-protein organic molecules. Both of these types of helper molecule can be tightly bound to the enzyme or bound only when the substrate binds.
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Electron Transport Chain: Complex III and IV01:43

Electron Transport Chain: Complex III and IV

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During the electron transport chain, electrons from NADH and FADH2 are first transferred to complexes I and II, respectively. These two complexes then transfer the electrons to ubiquinol, which carries them further to complex III. Complex III passes the electrons across the intermembrane space to Cyt c, which carries them further to complex IV. Complex IV donates electrons to oxygen and reduces it to water. As electrons pass through complexes I, III, and IV, the energy released aids the pumping...
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Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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Related Experiment Video

Updated: Nov 5, 2025

Biochemical Measurement of Neonatal Hypoxia
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A neonate with molybdenum cofactor deficiency type B.

Yuanyuan Lin1, Yanli Liu1, Si Chen1

  • 1Department of Neonatology, The Second Affiliated Hospital & Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.

Translational Pediatrics
|May 20, 2021
PubMed
Summary

Molybdenum cofactor deficiency (MoCD) type 2, a rare genetic disorder, can cause severe neonatal seizures and neurological decline. This case highlights a novel MOCS2 mutation in a Chinese infant, emphasizing the need for early diagnosis and genetic counseling.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatric Neurology

Background:

  • Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disorder affecting molybdenum-dependent enzymes.
Keywords:
MOCS2encephalomalacianeonateseizures

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  • Mutations in MOCS genes disrupt molybdenum cofactor biosynthesis.
  • MOCS2 deficiency, particularly in neonates, is associated with severe neurological symptoms.