Organic Acidemia

سال انتشار: 1398
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 458

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شناسه ملی سند علمی:

GDRC12_016

تاریخ نمایه سازی: 5 بهمن 1398

چکیده مقاله:

The term organic acidemia refers to a class of metabolic disorders caused by defects in enzyme activity which mediates catabolism of aminoacids, carbohydrates, fatty acids, as well as mitochondrial metabolisms. The defects result in accumulation of special polar molecules, named organic acids, in biological fluids, as such it is also known as organic aciduria.Materials & Methods: We searched on pubmed using keywords of organic acidemia, methylmalonic acidemia, propionic acidemia and isovaleric acidemia to review the clinical manifestations and management of these disorders.Results: Propionic acidemia, isovaleric acidemia, 3-methylcrotonyl glycinuria, 3-methyl glutaconic aciduria, glutaric acidemia type 1 and methylmalonic acidemia characterized as the most common types of organic academia. These disorders are phenotypically and genotypically heterogenous and encompass wide spectrum of diverse and non-specific symptoms.Conclusion & discussion: Many of these patients present with high anion gap metabolic acidosis, but bother manifestations such as lethargy, poor feeding, skin rash, nausea and vomiting, hypoglycemia, seizure, delayed development and abnormal odor of body fluids are also common findings in this group of congenital metabolic disorders in countries where neonatal screening for organic acidemias are not performed routinely. Every patient with above mentioned features should be evaluated for organic academia if other more common differential diagnoses are ruled out.Enhanced concentration of characteristic organic acids accompanied by specific acylcarnitines and other conjugates are hallmarks for diagnosis. Gas chromatography mass spectrometry (GC/MS) is performed to analyze organic academia in the blood and urine. Tandem mass spectrometry is used to evaluate acylcarnitine profile. Biochemical results should be confirmed by molecular genetic test.Management of these disorders are based on administration of enough calorie, limitation of some nutrients whose metabolism have defect, and supplementation with some cofactors to improve the metabolism, or help to excrete the toxic metabolites from the body.In most cases, early and accurate management can improve the prognosis and outcome of the patients

نویسندگان

Hossein Moravej

Neonatal Research Center, Shiraz University of Medical Sciences

Setila Dalili

Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht,Iran

Fatemeh Kharaee

Institute of medical advanced technologies, Guilan University of Medical Sciences, Rasht,Iran

Saman Nahid

Metabolic Department, Farzanegan Laboratory, Shiraz, Iran