Metabolic Abnormalities William W. Hay Jr. DISORDERS OF GLUCOSE METABOLISM Normal postnatal glucose homeostasis is established by increased glucose production and glucose utilization.1 Factors that promote glucose production…
Disorders of Glycogen Metabolism Priya S. Kishnani and Yuan-Tsong Chen GLYCOGEN STORAGE DISEASE Glycogen, the storage form of glucose in animal cells, is composed of glucose residues joined…
Anemia Due to Diminished Red Blood Cell Production Zora R. Rogers Anemia may be the first recognized hematologic finding in a child whose bone marrow is not functioning…
Hemoglobinopathies Charles T. Quinn Hemoglobin (Hb) is the oxygen-carrying protein within red blood cells (RBCs). It is composed of four globular protein subunits, called globins, and four oxygen-binding…
Mucopolysaccharidosis, Glycoproteinosis, and Mucolipidosis James Edmond Wraith MUCOPOLYSACCHARIDOSIS The mucopolysaccharidoses (MPS) are a family of disorders that are caused by inherited defects in the catabolism of sulfated components…
Disorders of Granulocytes R. Alexander Blackwood and Lawrence A. Boxer White blood cells, or leukocytes, are part of the innate immune system. They are one of the body’s…
Immune- and Inflammatory-Mediated Central Nervous System Syndromes Mark P. Gorman The central role of the immune system in several pediatric central nervous system (CNS) disorders has been increasingly…
Principles of Inborn Errors of Metabolism Jean-Marie Saudubray and Joe T. R. Clarke Over 400 human diseases that are due to inborn errors of metabolism are now recognized,…
Disorders of Heme Biosynthesis: The Porphyrias Robert J. Desnick The porphyrias are a group of inherited and acquired metabolic disorders, each resulting from the deficient activity of a…
Disorders of Bile Acid Synthesis Peter T. Clayton METABOLIC PATHWAYS The major bile acids produced in the liver are the taurine and glycine conjugates (amidates) of chenodeoxycholic acid…
