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Disorder of organic acid metabolism
- ... Glucose-6-phosphate dehydrogenase deficiency (G6PD) Human immunodeficiency disease (HIV) Organic acid metabolism disorders Phenylketonuria (PKU) Sickle cell disease and other ...
- Newborn Screening Tests for Your Baby (March of Dimes Foundation)Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation ... All babies in the U.S. receive newborn screening tests before leaving the hospital ...
- ... Inborn errors of carbohydrate, ammonia, amino acid, and organic acid metabolism. In: Gleason CA, Sawyer T, eds. Avery's Diseases of the Newborn . 11th ed. Philadelphia, PA: Elsevier; ...
- ... lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the ...
- ... SC, Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. 2014 ...
- ... is a buildup of a substance called methylmalonic acid in the blood. This condition is passed down through families. It is one of several conditions called an "inborn error of metabolism."
- ... Blood ammonia Blood glucose Plasma amino acids Urine organic acids Genetic tests Liver biopsy MRI or CT scan ... diseases, there is no way to prevent these disorders from ... to follow the prescribed diet can help prevent severe illness.
- ... Douglas, and Bennett's Principles and Practice of Infectious Diseases. 9th ... of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, ...
- ... deficiency, such as muscle weakness and hypoglycemia. Fatty acids can also build up in cells ... carnitine cotransporter novel organic cation transporter 2 OCTN2 organic cation transporter 5 ...
- ... deficiency, such as muscle weakness and hypoglycemia. Fatty acids can also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder. SLC22A5 This condition is inherited in an autosomal ...