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Related Concept Videos

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,...
Glycosaminoglycans01:23

Glycosaminoglycans

Glycosaminoglycans (GAGs), also known as mucopolysaccharides, are long and linear polymers comprising of specific repeating disaccharides - the amino sugar that can be N-acetylglucosamine or N-acetylgalactosamine, and a uronic acid that is usually glucuronic acid or iduronic acid.
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
Biosynthesis of Polysaccharides01:26

Biosynthesis of Polysaccharides

Polysaccharides such as glycogen and starch are synthesized from nucleoside diphosphate sugars, primarily uridine diphosphate glucose (UDPG) and adenosine diphosphate glucose (ADPG). These activated glucose donors act as key intermediates in carbohydrate metabolism and biosynthesis. UDPG primarily involves glycogen synthesis in animals and many bacteria, while ADPG plays a fundamental role in starch synthesis in plants and certain bacteria.UDPG is formed when glucose-1-phosphate reacts with...
Diagnosing Acidosis and Alkalosis01:24

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Diagnosing acid-base imbalances involves systematically analyzing arterial blood samples, focusing on three key measurements: pH, bicarbonate (HCO3−) concentration, and carbon dioxide partial pressure (PCO2). This analysis follows a four-step process that helps identify the imbalance's underlying cause and nature.
First, the pH level is assessed to determine whether the blood pH is normal (7.35–7.45), low (acidosis), or high (alkalosis).
Next, the PCO2  and HCO3−  values are examined to...

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Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry
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Diagnosing mucopolysaccharidosis IVA.

Timothy C Wood1, Katie Harvey, Michael Beck

  • 1Biochemical Genetics Laboratory, Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA. tim@ggc.org

Journal of Inherited Metabolic Disease
|February 2, 2013
PubMed
Summary

Diagnosing Mucopolysaccharidosis IVA (MPS IVA) requires enzyme activity testing for N-acetylgalactosamine-6-sulfate sulfatase (GALNS), even with normal urine tests. This approach aids in confirming the rare genetic disorder.

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Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Background:

  • Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder.
  • It is caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
  • Accurate diagnosis of MPS IVA is complex, necessitating the integration of clinical, radiographic, and laboratory findings.

Purpose of the Study:

  • To establish expert recommendations for the diagnosis of MPS IVA.
  • To address the challenges in diagnosing MPS IVA, particularly concerning biochemical and imaging assessments.
  • To streamline the diagnostic process for MPS IVA.

Main Methods:

  • A consensus meeting of biochemical genetics laboratory directors and clinicians specializing in MPS IVA diagnosis.
  • Review and synthesis of current diagnostic practices and challenges.
  • Development of a diagnostic testing algorithm.

Main Results:

  • Radiographic imaging of multiple body regions is recommended due to variable findings.
  • Urinary glycosaminoglycan analysis can be unreliable for MPS IVA; enzyme activity testing is crucial even with normal results.
  • Enzyme activity testing of GALNS is essential, with leukocytes or cultured dermal fibroblasts being the preferred sample types.

Conclusions:

  • Enzyme activity testing for GALNS is critical for MPS IVA diagnosis.
  • Additional tests are necessary to ensure sample integrity and rule out other lysosomal storage disorders.
  • Molecular testing can aid diagnosis, but may not identify causative mutations in all cases; a diagnostic algorithm is proposed.