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Related Concept Videos

Urea Cycle01:23

Urea Cycle

The urea cycle describes how liver cells convert ammonia to urea. Ammonia is a toxic waste product of protein catabolism. Land animals must convert ammonia into the less toxic urea which can be safely eliminated by the kidneys through urine. Marine animals excrete ammonia directly, and the surrounding water dilutes the ammonia to safe levels.
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
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Renal dysfunction significantly impairs the renal clearance of drugs, leading to potential complications in drug therapy. Renal failure, which can be caused by various factors, poses a significant challenge in the elimination of drugs from the body.
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The Citric Acid Cycle02:36

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In healthy individuals, serum creatinine levels remain stable due to a balance between its constant production—primarily from muscle metabolism—and renal excretion. Creatinine is freely filtered by the glomeruli, making it a valuable marker for estimating renal function. When the glomerular filtration rate (GFR) decreases, the kidneys can only eliminate less creatinine, causing serum levels to rise.Serum creatinine concentration is widely used to estimate creatinine clearance (Clcr), a...

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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Published on: June 25, 2010

Creatine metabolism in urea cycle defects.

Sara Boenzi1, Anna Pastore, Diego Martinelli

  • 1Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy. sara.boenzi@opbg.net

Journal of Inherited Metabolic Disease
|May 31, 2012
PubMed
Summary

Creatine (Cr) levels in urea cycle defect (UCD) patients vary based on arginine availability, impacting ureagenesis and Cr synthesis. Measuring plasma Cr may help optimize arginine therapy in UCDs.

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Published on: January 19, 2017

Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Neuroscience

Background:

  • Creatine (Cr) and phosphocreatine are vital for cellular energy metabolism.
  • Cr pool maintenance relies on diet and de novo synthesis from arginine, glycine, and s-adenosylmethionine.
  • Primary Cr deficiencies involve specific enzymes or transporters, while secondary deficiencies and abnormalities are seen in urea cycle defects (UCDs).

Purpose of the Study:

  • To investigate the relationship between ureagenesis and Cr synthesis in patients with UCDs.
  • To systematically measure plasma Cr concentrations in a large cohort of UCD patients.
  • To explore the role of cellular arginine availability in regulating both processes.

Main Methods:

  • Systematic measurement of plasma Cr concentrations.
  • Analysis of Cr trends in patients with various UCDs (OTC, ASS, ASL deficiencies, HHH syndrome, lysinuric protein intolerance).
  • Correlation analysis with cellular arginine availability and ureagenesis.

Main Results:

  • Plasma Cr concentrations in UCD patients showed two distinct trends.
  • A significant decrease in Cr was observed in OTC and ASS deficiencies and HHH syndrome.
  • Significantly increased Cr levels were found in ASL deficiency and lysinuric protein intolerance, linked to arginine availability.

Conclusions:

  • Cellular arginine availability is a key regulator of both ureagenesis and Cr synthesis.
  • Altered Cr metabolism may contribute to CNS dysfunction in UCD patients.
  • Plasma Cr measurement could aid in optimizing arginine substitution therapy for UCDs.