Pathology 3240A Lecture 10: Metabolic Diseases
15 Oct 2018
School
Department
Course
Professor
Document Summary
Metabolism: the range of biochemical processes that occur within us, or any living organism. Metabolism consists of both anabolism (build-up) and catabolism (breakdown) of substances. Metabolism is commonly used to refer to the breakdown of food (carbohydrates, proteins, fat) and its transformation into energy. Baby normal at birth, but accumulation of blood phenylalanine leads to: Impaired brain development (mental retardation, inability to talk and walk, seizures, hyperactivity) Decreased skin/hair pigmentation (tyrosine is precursor of melanin) Maternal pku syndrome:75-90% infants born to treated adult female pku patients have mental retardation due to maternal phenylalanine crossing the placenta during fetal development (teratogen) Screening test at first week of life; blood phenylalanine levels via heel pick. Treatment: diet (restriction of phenylalanine intake + tyrosine supplementation) until adulthood and during pregnancy: galactosemia. Conversion of galactose to glucose involves galt enzyme. Accumulation of galactose and metabolites in many organs and tissues, especially affecting eyes (cataracts), liver (jaundice, hepatomegaly), and brain.
