Obgyn Key

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…

Disorders of Lipid and Lipoprotein Metabolism   Peter O. Kwiterovich Jr.   Disorders of lipid and lipoprotein metabolism are characterized by dyslipidemia, which is defined as either elevated or low…