NUTR 3336 Lecture 7Outline of Last Lecture ► Metabolic DisordersNutrition PathophysiologyChapter 28► Inborn Errors of Metabolism► A group of diseases that effect a variety of metabolic processes Caused by:► A defect in the activity of one of the enzymes that can catalyze synthesis of a given substrate when needed May lead to:► The accumulation of compounds► Deficiencies► Epidemiology► Epidemiology/Inheritance Over 200 metabolic disorders reported Inherited through autosomal recessive transmission Approximately 4% of individuals in the US are born with genetic or partial genetic disorders each year► Pathophysiology of Impaired Metabolism► May be related to: Deficient or absent enzyme activity Defective gene that results in a change to the binding site of cofactors Enzymatic block that results from a much needed end product► Diagnosis► Newborn Screening Babies must be able to perform physiological tasks Detection may be complicated due to non-specific symptoms (and similar symptoms from inborn error to inborn error)► Clinical Manifestations► Neurological► Respiratory► GI signs► Organ Dysfunction► Amino Acid Disorders► PKU Absence of the Phenylalanine Hydroxylase enzyme► Inability to convert phenylalanine into tyrosine► Tyrosine becomes a conditionally EAAThese notes represent a detailed interpretation of the professor’s lecture. GradeBuddy is best used as a supplement to your own notes, not as a substitute.► Results in a build up of phenylalanine, phenylacetic, and phenylpyruvic acid levels► If untreated may cause mental retardation, severe behavioral problems, neurological abnormalities► Found to have musty odor and demyelination of white matter of brain► Disorders of CHO Metabolism► Include problems processing simple sugars (galactose and fuctose) OR defects in synthesizing and releasing glucose► Galactosemia Enzyme defect in galactose leading to several physiological problems Galactose is unable to convert galactose-1-phosphate into glucose-1-phosphate forthe production of free glucose via glycolysis► Disorders of CHO Metabolism► Galactosemia Clinical Manifestations:► Jaundice► Vomiting► Anorexia► Failure to gain wt► Disorders of CHO Metabolism► Fructose Intolerance Caused by a deficiency in activity of fructose-1-phosphate aldolase► Results in the accumulation of fructose-1-phosphate► Causes the depletion of inorganic phosphate and ATP Symptoms:► Vomiting► FTT► Diarrhea► Hypoglycemia► Liver Dysfunction► Aversion to Sweets► Disorders of CHO Metabolism► Glycogen Storage Diseases Caused by deficiencies of enzymes that regulate the synthesis and degradation of glycogen Symptoms:► Hypoglycemia► Poor Growth► Lactic Acidosis► Hyperlipidemia► Elevated Uric Acid Levels► Osteoporosis► Disorders of Fat Metabolism► Affects the body’s ability to properly undergo beta oxidation of fatty acids► Presents in infancy► HIV and AIDSNutrition PathophysioloyChapter 26Claudia Scott MS, RD, LD► Introduction► HIV- Human Immunodeficiency Virus Targets Host Immune Cells Asymptomatic Transmitted from person to person through infected body fluids► Progression of HIV to the associated symptomatic condition of AIDS (Acquired Immunodeficiency Syndrome) has the potential to render the host vulnerable to opportunistic infections► Introduction► HIV- Human Immunodeficiency Virus Epidemiology► Spread started before 1970► In 2005 there were an estimated 850,000- 950,000 people living with HIV in the US► Normal Anatomy and Physiology of Immune System ► Immunity Described As: Primary or secondary Humoral or cellular Active or Passive► T cells Primary target of HIV► CD4 cells and macrophages Infected and rendered dysfunctional by HIV► HIV and AIDS ► Etiology HIV is a retrovirus that contains RNA► Transcribed to dual stand DNA for incorporation HIV contains 9 genes, 6 of which or essential for penetrating and infecting target cells HIV transmission depends on inoculation dose and number of exposures► HIV and AIDS ► Etiology HIV injects RNA, enzymes, and other substances that assist in viral integration and replication When activated, cells become a viral factory that manufactures viral components As host CD4 cell manufactures, assembles, and releases viruses, it is incapacitatedand destroyed and macrophages harboring HIV are rendered dysfunctional► HIV and AIDS ► Pathophysiology Primary HIV infection shows a noted reduction in CD4 cell counts The higher the viral burden of HIV, the more CD4 cells are infected, rendered dysfunctional, and destroyed Malabsorption common due to HIV transmitted through the GI tract► HIV and AIDS► Diagnosis Blood to blood is most common transmission Possible to be exposed without seroconversion HIV-1► Primary subtype of HIV in America► There is a window period where HIV may be undetectable► ELISA used to anticipate the possibility of HIV infection► HIV and AIDS► Diagnosis HIV-1 continued…► Antibody levels may increase progressively for about 3-5 months► As infection transitions from recent to established, there is an increase in aggressiveness and affinity of HIV antibodies HIV-2► Common in Western Africa► Same testing methods as HIV-1► HIV and AIDS► Diagnosis Diagnosis of advanced HIV infection as AIDS is broken down into 3 classifications:► A CD4 count of <200 cells per microliter► A CD4 count that comprises <14% of lymphocytes present► And/or an AIDS defining illness► HIV and AIDS► Diagnosis The WHO Clinical and Immune Cell Categories of HIV Infection:► Primary Infection► Clinical Stage 1► Clinical Stage 2► Clinical Stage 3► Clinical Stage 4► HIV and AIDS► Clinical Manifestations: Initiation of Inflammatory Processes Altered Nutrient Metabolism Neurological Disorders Pulmonary Disorders Cardiac Problems GI Disorders Chronic Inflammation Hepatic Diseases Anemias Renal Failure Oral LesionsOutline of Current Lecture ► Musculoskeletal DiseasesChapter 27Nutrition Pathophysiology► Anatomy and Physiology► Cartilage Flexible yet firm connective tissue Amorphous gel-like matrix Composed of water, protein and CHO complexes (proteolycans) Formed by chondronblasts that become trapped in small