Lactic acidosis Tx: avoid chlorophyll in diet anion-gap metabolic acidosis Metabolism of glucose in RBC's bicarbonate levels no mitochondria

ndria for glucose metab anion gap metab via glycolysis and HMP lactic acid so d/t lactic acidosis hydrogen peroxide detoxified by glutathione d/t overproduction or impaired clearing of lactic peroxidase acid defect of glucose-6-P dehydrogenase impaired tissue oxygenation oxidative impaired glutathione reduction d/t failure to phosphorylation pyruvate shunted to lactate produce NADPH in RBC, glutathione deficiency causes similar Septic shock picture d/t dec NADPH s/sx (extremes) fever Xeroderma pigmentosum leukocytosis 6 y/o Caucasian male hypotension recurrent skin lesions on face & upper tachycardia extremities rapidly progress to cancer MC lobes for aspiration nonfunctional endonuclease standing or sitting UV light thymine dimer formation posterobasal segment of RLL UV-endonuclease usually excises dimer supine position superior segment of RLL right-sided position RML posterior segment of RUL

other proteins that can bind DNA: steroids thyroid proteins vitamin D receptors retinoic acid receptors DNA transcription and replication proteins

Question 12 & 18 Sickle cell anemia African ancestry substitution of valine for glutamic acid in 6th position of b-globin chain of Hgb runs out of breath quickly (exertional dyspnea) bones hurt (d/t vaso-occlusive events) Kozak consensus sequence (gcc)gccRccAUGG R = adenine or guanine initiator for translator if near AUG (methionine) usually purine (G or A) positioned 3 bases upstream from AUG is key factor in initiation

Lipoic acid cofactor for In the lungs, Hgb binds oxygen and releases protons PDH (def lactic acidosis) In tissues, Hgb releases O2 and acquires protons a-ketoglutarate DH branched-chain ketoacid DH (def maple Serine and threonine residue phosphorylation by serine Elderly px w dementia, hemiparesis, dependent lung kinase insulin resistance syrup urine disease) consolidation aspiration pneumonia can occur in the presence of TNF-alpha, catecholamines, glucocorticoids, and glucagon Ceramide trihexoside Peroxisomal disease accumulated in tissues in patients with Fabry VLCFA can't undergo mitochondrial betadisease oxidation inherited deficiency of alpha-galactosidase so undergo beta/alpha oxidation in A peroxisomes cultured fibroblasts fail to metabolize ceramide fatty acids accumulate when peroxisomes are trihexoside absent early manifestations angiokeratomas, e.g. Zellweger syndrome hypohidrosis, acroparasthesia infants unable to properly myelinate CNS without enzyme replacement progressive S/sx: hypotonia, seizures, hepatomegaly, renal failure MR, early death Refsum disease n-myc protein defect in peroxisomal alpha oxidation transcription factor that is capable of binding leads to neuro disturbances d/t phytanic DNA acid thus, can be detected by DNA probes