Inborn Errors Associated with Faulty Bone Mineralization Rebecca S. Wappner DISORDERS OF ALKALINE PHOSPHATASE Hypophosphatasia Alkaline phosphatase is contained in membrane-enclosed vesicles located at the sites of mineral deposition in…
Heritable Disorders of Connective Tissue Bart L. Loeys Michael J. Wright Harry C. Dietz III The diversity of clinical features in connective tissue diseases pays witness to the ubiquitous nature…
Lysosomal Storage Disorders Rebecca S. Wappner Lysosomes are cytoplasmic, single membrane–bound organelles that contain hydrolytic enzymes responsible for the degradation of a variety of compounds, including mucopolysaccharides, sphingolipids, and glycoproteins….
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…
