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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...
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Pharmacokinetics in Pediatric Patients: Drug Metabolism

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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Hyperglycemia

Hyperglycemia is an abnormally high blood glucose level. It is diagnosed by fasting glucose ≥126 mg/dL, 2-hour oral glucose tolerance test (or OGTT) ≥200 mg/dL, random glucose ≥200 mg/dL with symptoms, or HbA1c ≥6.5%. However, HbA1c results may be unreliable in certain conditions, such as anemia or hemoglobinopathies, and the diagnosis should be confirmed unless classic symptoms are present. Postprandial hyperglycemia is typically considered significant when glucose levels exceed 180 mg/dL two...
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Hypoglycemia and Glucagon

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Updated: Jun 26, 2026

Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines
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Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines

Published on: November 25, 2017

[Macroamylasaemia in paediatrics].

A Torrent Vernetta1, O Segarra Cantón, P Soler Palacín

  • 1Unitat de Gastroenterologia, Hepatologia i Suport a la Nutrició Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. atorrentvernetta@hotmail.com

Anales De Pediatria (Barcelona, Spain : 2003)
|January 9, 2009
PubMed
Summary
This summary is machine-generated.

Macroamylasaemia, a condition with high plasma amylase, involves large amylase-immunoglobulin complexes. Diagnosing this rare pediatric condition avoids unnecessary invasive tests.

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Biochemical Measurement of Neonatal Hypoxia
13:13

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Published on: August 24, 2011

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Last Updated: Jun 26, 2026

Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines
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Published on: November 25, 2017

Biochemical Measurement of Neonatal Hypoxia
13:13

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

Area of Science:

  • Biochemistry
  • Clinical Diagnostics
  • Pediatrics

Background:

  • Macroamylasaemia is characterized by elevated serum amylase due to high molecular weight macrocomplexes, often amylase-immunoglobulin complexes.
  • It presents with hyperamylasemia in patients lacking clinical signs of pancreatic or parotid disease, with normal renal function.

Observation:

  • This biochemical anomaly is uncommon in pediatric cases.
  • It has been incidentally found in association with abdominal pain and celiac disease.

Findings:

  • A key diagnostic indicator is hyperamylasemia without a corresponding increase in urine amylase.
  • Confirmation involves identifying the macromolecular components responsible for the elevated serum amylase.

Implications:

  • Accurate diagnosis of macroamylasaemia is crucial for differentiating it from other causes of hyperamylasemia.
  • This distinction helps prevent unnecessary invasive investigations and treatments in affected patients, particularly children.