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• W2615770360 abstract "Organic acidemias or acidurias are a class of disorders characterized by the excretion of organic acids in the urine. This class of inborn error is typically caused by a deficiency in enzymatic activity involved with the catabolism of amino acids, though other biochemical pathways may be involved as well. The clinical presentation may present itself at any time; however, the neonatal or infantile period is of greatest importance. Commonly identified signs and symptoms include coma, lethargy, and developmental delay. Typical complaints upon presentation include vomiting, poor feeding, and seizures. Common laboratory abnormalities at the time of presentation include metabolic acidosis with an increased anion gap, hypoglycemia, hyperammonemia, lactic acidemia, and ketosis. 1 The most commonly used test for identifying organic acidemias is urine organic acid analysis, though acylcarnitine profiles are helpful too. Various biomarkers can be identified using these tests. Management of an organic acidemia typically involves a modified diet containing both restrictions and additions specific to the disorder." @default.
• W2615770360 created "2017-05-26" @default.
• W2615770360 creator A5090654288 @default.
• W2615770360 date "2017-01-01" @default.
• W2615770360 modified "2023-09-26" @default.
• W2615770360 title "Organic acid disorders" @default.
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• W2615770360 doi "https://doi.org/10.1016/b978-0-12-802896-4.00002-x" @default.
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