NFS 143 Lecture Notes - Lecture 9: Branched-Chain Amino Acid, Acidosis, Hepatomegaly
26 Sep 2018
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Document Summary
Maple syrup urine disease a defect in the metabolism of the branched chain amino acids: isoleucine, leucine, and valine. Disorders of leucine catabolism: isovaleric acidemia an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-coa dehydrogenase resulting in the accumulation of derivatives of isovaleryl-coa. Disorders of the aromatic and methylmalonic amino acids metabolism. Disorders of the nitrogen metabolism caused by a deficiency of one of the enzymes in the urea cycle. Disorders of carbohydrate metabolism: galactosemia clinical symptoms: vomiting, liver enlargement, and jaundice are often the earliest signs of the disease. Bacterial infections (often severe) =, irritability, failure to gain weight, and diarrhea may also occur. Failure to thrive the american academy of pediatrics (aap) utilizes two criteria for diagnosing failure to thrive (ftt) Organic failure to thrive oftt is lack of growth associated with an identifiable disease or disorder.
