Pathology 3240A Lecture Notes - Lecture 12: Diabetic Retinopathy, Diabetic Nephropathy, Protein Kinase C

• School: Western University
• Department: Pathology
• Course: Pathology 3240A
• Professor: Aaron Haig

Document Summary

P henylk etouria (p k u: d eficient in enz yme res pons ible for convers ion of phenylalanine to tyros ine. C linical features : h ypomyelination in brain: glios is , microcephaly, and no lys os omal s torage in neurons. S eiz ures and hyperactivity: d ecreas ed pigmentation in hair and s kin (s ince tyros ine is a precurs or to melanin, a utos omal reces s ive. G alac tos em ia: d eficiency in galatos e, d is order of carbohydrate. L ife expectancy s erum analys is to s creen all newborns: t reatment: res trict phenylalanine in diet. G alac tos em ia c ontinu ed. L ife expectancy: aminoaciduria (amino acid trans port is impaired when galactos e builds up in the kidney) L ys os om al s torag e.