vitamin B12 deficiency (symptoms) - numbness feet/hands: demyelination. Proprioception loss. Weakened vasculature. Muscle weakness., vitamin B12 deficiency (findings) - Pernicious anemia, macrocytic and megaloblastic anemia, increase neutrophil lobes, low folate, Methylmalonyl CoA acidemia (symptoms) - Hypotonia, hepatomegaly, ketoacidosis, hyperammonemia, thrombopenia, renal failure and cardiomyopathy, Methylmalonyl CoA acidemia (findings) - high methylmalonic acid and ketones in blood and urine , Methylmalonyl CoA acidemia (cause) - Vitamin B12 deficiency in infants, vitamin B12 deficiency (cause) - Low meat, dairy, other animal products, Propionyl CoA carboxylase is necessary for - Val, Odd chain FAs, Met, Ile, Thr, Propionyl CoA carboxylase deficiency (symptoms)) - severe vomiting, encephalopathy, bone marrow suppression, failure to thrive, cardiomyopathy, recurrent infections, pancreatic infections, Propionyl CoA carboxylase deficiency (findings)) - High propionic acid and ketones in urine, Isovaleric acidemia (symptoms) - same as Propionyl CoA + lethargy, sweaty feet odor in urine, Isovaleric acidemia (findings) - High isovaleric acid in urine, Cystathionine Beta Synthase Deficiency aka Homocystinuria (symptoms) - Limited joint mobility, ocular lens dislocation, myopia, high inflammatory and prothrombic leading to increased stroke, MI, etc., Cystathionine Beta Synthase Deficiency aka Homocystinuria (findings) - High homocysteine and Met. Low Cys. , Other causes for homocystinuria - Mutations in methionine synthasem methylmalonyl CoA mutase, and FH4 reductase, Maple Syrup Urine Disease (cause) - mutation in Branched chain ketoacid dehydrogenase, Maple Syrup Urine Disease (symptoms) - Low NTs, low blood osmolarity and Na+ = cerebral edema, poor PO, vomiting, and lethargy, Maple Syrup Urine Disease (findings) - Maple syrup smelling urine and earwax, high ketones, high BCAAs and Alloleucine,

TBL 1 Diseases

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