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Related Concept Videos

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...
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Translation01:31

Translation

Lesson: Translation
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
Translation01:31

Translation

Lesson: Translation
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
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:

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Related Experiment Video

Updated: May 25, 2026

Functional Complementation Analysis (FCA): A Laboratory Exercise Designed and Implemented to Supplement the Teaching of Biochemical Pathways
09:27

Functional Complementation Analysis (FCA): A Laboratory Exercise Designed and Implemented to Supplement the Teaching of Biochemical Pathways

Published on: June 24, 2016

Argininosuccinate lyase deficiency.

Sandesh C S Nagamani1, Ayelet Erez, Brendan Lee

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. Sandesh C.S. Nagamani

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|January 14, 2012
PubMed
Summary

Argininosuccinate lyase deficiency (ASLD) is a common urea cycle disorder causing hyperammonemia. Long-term complications may arise from ASL

Area of Science:

  • Biochemistry and Genetics
  • Metabolic Disorders
  • Inborn Errors of Metabolism

Background:

  • The urea cycle detoxifies nitrogenous waste via six enzymatic steps.
  • Urea cycle disorders (UCDs) result from enzyme deficiencies, often causing hyperammonemia.
  • Argininosuccinate lyase (ASL) deficiency (ASLD) is the second most common UCD, affecting ~1 in 70,000 births.

Purpose of the Study:

  • To review the clinical manifestations, diagnosis, and management of ASL deficiency (ASLD).
  • To highlight potential non-ureagenic functions of ASL contributing to long-term complications.
  • To discuss current therapeutic strategies for acute and chronic ASLD management.

Main Methods:

  • Review of existing literature on ASL deficiency.
  • Analysis of clinical presentation, diagnostic biochemical markers, and genetic testing.

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  • Evaluation of treatment protocols including dietary management and liver transplantation.

    • Main Results:

    • ASLD presents with neonatal or late-onset hyperammonemia, and potential long-term issues like liver dysfunction, neurocognitive deficits, and hypertension.
    • Elevated plasma citrulline and argininosuccinic acid are key diagnostic indicators.
    • No genotype-phenotype correlation exists; treatment involves protein restriction, arginine supplementation, and nitrogen scavengers; liver transplantation is reserved for severe cases.

    Conclusions:

    • ASLD is a significant UCD with diverse clinical outcomes.
    • Non-ureagenic roles of ASL may explain complications independent of hyperammonemia.
    • Comprehensive management is crucial for improving patient prognosis.