Clinical Resources by Topic: Metabolic Disorders

Amino Acid Metabolism Defects Clinical Resources

Pediatrics | Radiology | Pathology | Genetics | Clinical Guidelines | News | Miscellaneous Resources

• Harrison's Principles of Internal Medicine 16th Ed.-2005: Table of contents - Medical Library subscription ( INFO )
  • Chapter 343. Inherited Disorders of Amino Acid Metabolism Presenting in Adults: Table of contents
    • Introduction: Access document
    • The Hyperphenylalaninemias: Access document
    • The Homocystinurias (Hyperhomocysteinemias): Access document
    • Alkaptonuria: Access document
    • Further Reading: Access document

• Feldman: Sleisenger and Fordtran's Gastrointestinal and Liver Disease 7th Ed.-2002 (MD Consult): Table of contents - Medical Library subscription ( INFO )
  • Chapter 65 - Inherited Metabolic Disorders of the Liver: Access document
    • Introduction: Access document
    • Tyrosinemia: Access document
    • References: Access document
• Brenner and Rector's The Kidney 7th Ed.-2004 (MD Consult): Table of contents - Medical Library subscription ( INFO )
  • Chapter 36 - Inherited Disorders of the Renal Tubule: Access document
    • Introduction: Access document
    • Inherited Disorders Associated with Generalized Dysfunction of the Proximal Tubule (Renal Fanconi Syndrome): Access document
      • Clinical Presentation: Access document
      • Tyrosinemia: Access document
• Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents - Medical Library subscription ( INFO )
  • Chapter 31 - Aminoacidopathies and Organic Acidopathies, Mitochondrial Enzyme Defects, and Other Metabolic Errors: Access document
    • Introduction: Access document
    • Aminoacidopathies and Organic Acidopathies: Access document
    • Inherited Disorders Related to Vitamin Metabolism: Access document
    • Mitochondrial Enzyme Defects: Access document
    • Fatty Acid Oxidation Disorders: Access document
    • Other Metabolic Disorders: Access document
    • Reviews and Selected Updates: Access document
    • References: Access document
• Goldman: Cecil Textbook of Medicine 22nd Ed.-2004 (MD Consult): Table of contents - Medical Library subscription ( INFO )
  • Part VI - Genetics: Access document
    • Chapter 37 - Inborn Errors of Metabolism: Access document
      • Introduction: Access document
      • Treatment of Inherited Disease: Access document
      • Suggested Readings: Access document
  • Part XVI - Metabolic Diseases: Access document
    • Chapter 218 - Disorders of Phenylalanine and Tyrosine Metabolism: Access document
      • Introduction: Access document
      • The Hyperphenylalaninemias: Access document
      • Alkaptonuria: Access document
      • Hepatorenal Tyrosinemia (or Tyrosinemia Type I): Access document
      • Suggested Readings: Access document
    • Chapter 219 - The Hyperprolinemias and Hydroxyprolinemia: Access document
      • Introduction: Access document
      • [The Hyperprolinemias and Hydroxyprolinemia]: Access document
      • Suggested Readings: Access document
    • Chapter 222 - Homocystinuria: Access document
      • [Homocystinuria]: Access document
      • Suggested Readings: Access document
• Other MD Consult Reference Books: Table of contents - Medical Library subscription ( INFO )
  • All MD Consult Reference Books for
• Medicine, Ob/Gyn, Psychiatry, and Surgery (eMedicine): Table of contents
  • Hypercalciuria: Access document
• Neurology (eMedicine): Table of contents
  • Inherited Metabolic Disorders: Access document
  • Metabolic Disease and Stroke: Homocystinuria/Homocystinemia: Access document
  • Ataxia with Identified Genetic and Biochemical Defects: Access document

Pediatrics Resources   See also General Pediatrics Resources

• Behrman: Nelson Textbook of Pediatrics 17th Ed.-2004 (MD Consult): Table of contents - Medical Library subscription ( INFO )
  • Part 10 - Metabolic Diseases
    • Chapter 73 - An Approach to Inborn Errors of Metabolism: Access document
    • Chapter 74 - Defects in Metabolism of Amino Acids: Access document
      • Phenylalanine: Access document
      • Tyrosine: Access document
      • Methionine: Access document
      • Cysteine/Cystine: Access document
      • Tryptophan: Access document
      • Valine, Leucine, Isoleucine, and Related Organic Acidemias: Access document
      • Glycine: Access document
      • Serine: Access document
      • Proline and Hydroxyproline: Access document
      • Glutamic Acid: Access document
      • Urea Cycle and Hyperammonemia (Arginine, Citrulline, Ornithine): Access document
      • Histidine: Access document
      • Lysine: Access document
      • Aspartic Acid (Canavan Disease): Access document
• The Merck Manual 17th Ed.-1999: Table of contents
  • Chapter 269: (Pediatric) Endocrine and Metabolic Disorders: Table of contents
    • Anomalies in Amino Acid Metabolism: Access document
• Emergency Medicine (eMedicine): Table of contents
  • Pediatrics, Inborn Errors of Metabolism: Access document
• Pediatrics (eMedicine): Table of contents
  • Hyperphenylalaninemia: Access document
  • Phenylketonuria: Access document
  • Maple Syrup Urine Disease: Access document
  • Cystinosis: Access document
  • Alkaptonuria: Access document
  • Tyrosinemia: Access document
• Dermatology (eMedicine): Table of contents
  • Phenylketonuria: Access document

Radiology Resources   See also General Radiology Resources

• CHORUS-Collaborative Hypertext of Radiology: Homepage
  • Musculoskeletal System: List of documents
    • Ochronosis (Alkaptonuria): Access document
    • Homocystinuria: Access document

Pathology Resources

• Kumar: Robbins and Cotran: Pathologic Basis of Disease 7th Ed.-2005 (MD Consult): Table of contents - Medical Library subscription ( INFO )
  • Chapter 10 - Diseases of Infancy and Childhood: Access document
    • Introduction: Access document
    • Inborn Errors of Metabolism and Other Genetic Disorders: Access document
    • References: Access document
• Henry: Clinical Diagnosis and Management by Laboratory Methods, 20th Ed.-2001 (MD Consult): Table of contents - Medical Library subscription ( INFO )
  • Part II - Clinical Chemistry: Access document
    • Chapter 10 - Metabolic Intermediates, Inorganic Ions and Biochemical Markers of Bone Metabolism: Access document
      • Nonprotein Nitrogenous Compounds: Access document
      • References: Access document

Genetics Resources   See also General Genetics Resources

• Ravel: Clinical Laboratory Medicine 6th Ed.-1995 (MD Consult): Table of contents - Medical Library subscription ( INFO )
  • Chapter 34 - Genetic Disorders: Access document
    • Diagnostic Methods: Access document
    • Defects in Amino Acid Metabolism (Aminoacidopathies): Access document
• Online Mendelian Inheritance in Man: Homepage
  • Phenylketonuria: Access document
  • Type I Tyrosinemia - Tyrosinosis: Access document
  • Type II Tyrosinnemia - Richner-Hanhart Syndrome: Access document
  • Type III Tyrosinemia: Access document
  • Alcaptonuria: Access document
  • Homocystinuria: Access document
  • Histidinemia: Access document
  • Maple Syrup Urine Disease Type Ia: Access document
  • Maple Syrup Urine Disease Type Ib: Access document
  • Maple Syrup Urine Disease Type II: Access document
  • Methylmalonic Aciduria: Access document
  • Non-ketonic Hyperglycinemia Type I (NKHI): Access document
  • Hyperlysinemia: Access document

Clinical Guidelines

• NIH Consensus Development Program: Homepage
  • NIH Consensus Statements: List of documents
    • Phenylketonuria (PKU): Screening and Management (2000): Table of contents
• MD Consult Practice Guidelines: Table of contents | Keyword search - Medical Library subscription ( INFO )
  • Phenylketonuria: List of documents
• National Guideline Clearinghouse: MeSH browse | Detailed search
  • Phenylketonurias (MeSH browse): List of documents
  • Amino Acid (Keyword search): List of documents

News Resources

• Doctor's Guide to the Internet: Homepage
  • Nutrition/DieteticsNews: List of documents
    • Amino Acid (Keyword search): List of documents
• MD Consult: Homepage - Medical Library subscription ( INFO )
  • Today in Medicine: Table of content (scroll down to Endocrinology and Metabolism)

• YAHOO - Health:Diseases and Conditions:Metabolic Diseases
  Additional Metabolic Diseases resources (These sites have not been reviewed.)
• YAHOO - Health:Diseases and Conditions:Genetic Disorders
  Additional Genetic Disorders resources (These sites have not been reviewed.)
• YAHOO - Science:Biology:Genetics
  Additional Genetics resources (These sites have not been reviewed.)