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"Classical organic acidurias": diagnosis and pathogenesis
Guglielmo Rd Villani1,2, Giovanna Gallo3,4, Emanuela Scolamiero4
1Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", Naples, Italy. guglielmorosariodomeni.villani@unina.it.
Clinical and Experimental Medicine
|September 11, 2016
Summary
Organic acidurias are inherited metabolic disorders causing organic acid buildup. This review details GC-MS diagnostic methods and updated reference values for classical organic acidurias, enhancing disease understanding.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Organic acidurias are inherited metabolic diseases caused by enzyme or transport protein deficiencies.
- These deficiencies lead to the accumulation and urinary excretion of organic acids.
- Over 65 types exist, with a collective incidence of approximately 1 in 3000 live births.
Purpose of the Study:
- To review gas chromatography-mass spectrometry (GC-MS) methodologies for diagnosing classical organic acidurias.
- To provide updated reference values for common organic acids involved in these disorders.
- To present recent updates on the pathogenetic mechanisms of classical organic acidurias.
Main Methods:
- Focus on gas chromatography-mass spectrometry (GC-MS) based diagnostic techniques.
- Compilation and presentation of updated reference values for key organic acids.
- Literature review for recent pathogenetic insights.
Main Results:
- Established GC-MS as a primary diagnostic tool for classical organic acidurias.
- Provided current reference values for frequently implicated organic acids.
- Summarized recent advancements in understanding disease pathogenesis.
Conclusions:
- GC-MS is crucial for diagnosing classical organic acidurias.
- Updated reference values aid in accurate diagnosis and monitoring.
- Continued research into pathogenesis is vital for improved patient outcomes.
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