Related Experiment Videos
Organic acidurias: a review. Part 2
1Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Journal of Child Neurology
|October 1, 1991
Summary
Organic acidemias involve metabolic disruptions affecting glucose, ketone, and ammonia processing, often causing hypoglycemia and acidosis. Diagnosis typically relies on urine organic acid analysis via GC/MS.
Area of Science:
- Biochemistry
- Clinical Diagnostics
- Metabolic Disorders
Background:
- Organic acidemias are a group of inherited metabolic disorders.
- They disrupt the normal breakdown of amino acids, fats, and carbohydrates.
- This leads to a buildup of toxic organic acids in the body.
Purpose of the Study:
- To outline the diagnostic approach to organic acidemias.
- To detail the laboratory findings and diagnostic methods.
- To discuss treatment strategies for organic acidemias.
Main Methods:
- Analysis of laboratory findings, including acid-base balance, hypoglycemia, ketoacidosis, and hyperammonemia.
- Gas chromatography/mass spectrometry (GC/MS) for urine organic acid profiling.
- Enzyme assays on patient cells and tissues for definitive diagnosis.
Main Results:
- Characteristic patterns of excreted organic acids aid in diagnosing specific organic acidemias.
- GC/MS is a key diagnostic tool for identifying these disorders.
- Loading tests and enzyme assays can confirm diagnoses when initial assessments are inconclusive.
Conclusions:
- Accurate diagnosis of organic acidemias is crucial for timely intervention.
- Treatment involves dietary modifications, supplements, medications, and enzyme stimulation.
- Symptomatic management of acid-base and electrolyte imbalances is essential.