Disorders of Purine and Pyrimidine Metabolism Rebecca S. Wappner PURINE AND PYRIMIDINE METABOLISM Purine and pyrimidine nucleotides are important constituents of RNA, DNA, nucleotide sugars, and other high-energy compounds and…
Peroxisomal Disorders Rebecca S. Wappner Peroxisomes are small, single membrane–bound, electron-dense, subcellular organelles associated with a growing number of recognized biochemical functions and related disorders. Initially termed microbodies, the name…
Disorders of Lipoproteins Rebecca S. Wappner LIPOPROTEIN METABOLISM Lipids are a primary source of energy. They also function as the structural components of cell membranes and are precursors of biologically…
Disorders of Carbohydrate Metabolism Rebecca S. Wappner CARBOHYDRATE METABOLISM Dietary carbohydrates include polymeric starch from plant sources, glycogen from animal sources, disaccharides in the form of lactose from milk sources…
Disorders of Mitochondrial Fatty Acid Oxidation Bryan E. Hainline Rebecca S. Wappner FATTY ACID METABOLISM One of the primary functions of mitochondria, the aerobic production of energy from fatty acids,…
Disorders of Amino Acid and Organic Acid Metabolism Rebecca S. Wappner DISORDERS OF PHENYLALANINE AND TYROSINE METABOLISM Phenylalanine is an essential amino acid in that it cannot be synthesized in…
Disorders of Transport Rebecca S. Wappner An increasing number of inborn errors of metabolism are being recognized to result from defects in the transport of various types of metabolites or…
Introduction to Inborn Errors of Metabolism Rebecca S. Wappner Bryan E. Hainline The concept of inherited biochemical genetic disorders was described first by Garrod in his 1908 published lecture, “Inborn…
Adrenal Medulla Patricia A. Donohoue NORMAL ADRENAL MEDULLARY DEVELOPMENT AND SECRETIONS Early in embryogenesis, primitive sympathetic nervous system ganglion cells migrate from neural ectoderm, differentiate into pheochromoblasts, and penetrate the…
Adrenal Cortex Patricia A. Donohoue NORMAL ADRENAL DEVELOPMENT AND STEROID HORMONE SYNTHESIS The fetal adrenal cortex develops from coelomic mesothelium in proximity to the developing bipotential gonads. The cortex then…
