Clinical Studies in Medical Biochemistry

Univ. of New Mexico, Albuquerque. Focuses on intermediary metabolism and other topics central to biochemistry. Topics include nucleic acids and protein structure and function, fuel metabolism and energetics, protein-energy malnutrition, and more. For students. Previous edition not cited. Hardcover, softcover available. DNLM: Biochemistry-Case Reports.

Contributors

xi

Part I Nucleic Acids and Protein Structure and Function

Fragile X Syndrome

3

(14)

Yuji Yokoyama

Shinsuke Ninomiya

Koji Narahara

Sickle Cell Anemia

17

(13)

Keith Quirolo

Osteogenesis Imperfecta

30

(12)

Armando Flor-Cisneros

Sergey Leikin

α1-Antitrypsin Deficiency

42

(12)

Sarah Jane Schwarzenberg

Harvey L. Sharp

Cardiac Troponin: Clinical Role in the Diagnosis of Myocardial Infarction

54

(12)

Fred S. Apple

Allan S. Jaffe

Hereditary Spherocytosis

66

(11)

Hiroshi Ideguchi

Part II Fuel Metabolism and Energetics

Pyruvate Dehydrogenase Complex Deficiency

77

(12)

Peter W. Stacpoole

Lesa R. Gilbert

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS): A Case of Mitochondrial Disease

89

(12)

Frank J. Castora

Systemic Carnitine Deficiency: A Treatable Disorder

101

(6)

Eric P. Brass

Harbhajan S. Paul

Gail Sekas

Neonatal Hypoglycemia and the Importance of Gluconeogenesis

107

(16)

Ian R. Holzman

J. Ross Milley

Part III Intermediary Metabolism

Glucose 6-Phosphate Dehydrogenase Deficiency and Oxidative Hemolysis

123

(11)

Catherine Burton

Richard Kaczmarski

Biotinidase Deficiency: A Biotin-Responsive Disorder

134

(10)

Barry Wolf

Adrenoleukodystrophy

144

(8)

Margaret M. McGovern

Low-Density Lipoprotein Receptors and Familial Hypercholesterolemia

152

(7)

Marina Cuchel

Daniel J. Rader

Tangier Disease: A Disorder in the Reverse Cholesterol Transport Pathway

159

(8)

Lien B. Lai

Vijayaprasad Gopichandran

Venkat Gopalan

Gaucher Disease: A Sphingolipidosis

167

(14)

William C. Hines

Robert H. Glew

I-Cell Disease (Mucolipidosis II)

181

(14)

James Chambers

Inborn Errors of Urea Synthesis

195

(9)

Pranesh Chakraborty

Michael T. Geraghty

Phenylketonuria

204

(13)

William L. Anderson

Steven M. Mitchell

HMG-CoA Lyase Deficiency

217

(9)

Virginia K. Proud

Miriam D. Rosenthal

Hyperhomocysteinemia

226

(8)

Angela M. Devlin

Steven R. Lentz

Neonatal Hyperbilirubinemia

234

(11)

Jeffrey C. Fahl

David L. Vanderjagt

Part IV Digestion, Absorption, and Nutritional Biochemistry

Obesity: A Growing Problem

245

(10)

Miriam D. Rosenthal

Lawrence M. Pasquinelli

Protein-Energy Malnutrition

255

(11)

Vijayaprasad Gopichandran

Lien B. Lai

Venkat Gopalan

Lactose Intolerance

266

(12)

Marcy P. Osgood

Abiodun O. Johnson

Pancreatic Insufficiency Secondary to Chronic Pancreatitis

278

(12)

Peter Layer

Jutta Keller

Abetalipoproteinemia

290

(10)

Paul Rava

M. Mahmood Hussain

Vitamin B12 Deficiency

300

(13)

Dorothy J. Vanderjagt

Denis M. McCarthy

Vitamin A Deficiency in Children

313

(10)

Nuttaporn Wongsiriroj

Emorn Wasantwisut

William S. Blaner

Calcium-Deficiency Rickets

323

(12)

Dorothy J. Vanderjagt

Robert H. Glew

Hereditary Hemochromatosis

335

(10)

Scott A. Fink

Raymond T. Chung

Part V Endocrinology and Integration of Metabolism

Type I Diabetes Mellitus

345

(15)

Srinivas Panja

Aruna Chelliah

Mark R. Burge

Congenital Adrenal Hyperplasia: P450c21 Steroid Hydroxylase Deficiency

360

(9)

Gerald J. Pepe

Miriam D. Rosenthal

Index

369

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Clinical Studies in Medical Biochemistry

Summary

Table of Contents

Supplemental Materials