Inherited Disorders of Metabolism

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• Introduction to Inherited Disorders of Metabolism
  • More Information

• Approach to the Patient With a Suspected Inherited Disorder of Metabolism
  • Evaluation
    • History and physical examination
    • Initial testing
    • Specific and confirmatory testing
  • More Information

• Mitochondrial Oxidative Phosphorylation Disorders
  • Leber Hereditary Optic Neuropathy (LHON)
    • LHON references
  • Leigh Syndrome
    • Leigh syndrome references
  • Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS)
  • Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
    • MNGIE reference
  • Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
  • Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)
  • Single Large-Scale Mitochondrial DNA Deletion Syndromes (SLSMDS)
  • More Information

• Peroxisomal Disorders
  • References
  • Classic Refsum Disease
    • Refsum disease reference
  • Rhizomelic Chondrodysplasia Punctata
  • X-Linked Adrenoleukodystrophy (ALD)
    • X-linked ALD references
  • Zellweger Syndrome (ZS), Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease (IRD)
  • More Information

• Overview of Amino Acid and Organic Acid Metabolism Disorders
  • More Information

• Branched-Chain Amino Acid Metabolism Disorders
  • Maple Syrup Urine Disease
    • Maple syrup urine disease reference
  • Isovaleric Acidemia
  • Propionic Acidemia
  • Methylmalonic Acidemia
  • More Information

• Hartnup Disease
  • Symptoms and Signs
  • Diagnosis
    • Diagnosis reference
  • Treatment

• Methionine Metabolism Disorders
  • Classic Homocystinuria
  • Other forms of homocystinuria
  • Cystathioninuria
  • Sulfite Oxidase Deficiency
  • More Information

• Phenylketonuria (PKU)
  • General reference
  • Pathophysiology
    • Variant forms
  • Symptoms and Signs
  • Diagnosis
  • Treatment
  • Prognosis
  • Key Points
  • More Information

• Tyrosine Metabolism Disorders
  • Transient Tyrosinemia of the Newborn
  • Tyrosinemia Type I
    • Tyrosinemia type I reference
  • Tyrosinemia Type II
  • Alkaptonuria
  • Oculocutaneous Albinism
  • More Information

• Urea Cycle Disorders
  • Symptoms and Signs
  • Diagnosis
  • Treatment
    • Treatment reference
  • More Information

• Overview of Carbohydrate Metabolism Disorders
  • More Information

• Fructose Metabolism Disorders
  • Fructose 1-Phosphate Aldolase (Aldolase B) Deficiency
    • Aldolase B deficiency reference
  • Fructokinase Deficiency
    • Fructokinase deficiency reference
  • Fructose-1,6-Bisphosphatase Deficiency
  • More Information

• Galactosemia
  • Galactose-1-phosphate uridyl transferase deficiency
  • Galactokinase deficiency
  • Uridine diphosphate galactose 4-epimerase deficiency
  • References
  • Diagnosis
  • Treatment
  • More Information

• Glycogen Storage Diseases
  • Reference
  • More Information

• Pyruvate Metabolism Disorders
  • Pyruvate Dehydrogenase Deficiency
  • Pyruvate Carboxylase Deficiency
    • Pyruvate carboxylase deficiency reference
  • More Information

• Other Carbohydrate Metabolism Disorders
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• Overview of Fatty Acid and Glycerol Metabolism Disorders
  • More Information

• Beta-Oxidation Cycle Disorders
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
  • Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
  • Glutaric Acidemia Type II
  • More Information

• Glycerol Metabolism Disorders
  • More Information

• Overview of Lysosomal Storage Disorders
  • Mucopolysaccharidoses (MPS)
  • Sphingolipidoses
  • Mucolipidoses and Other Lysosomal Disorders
  • More Information

• Cholesteryl Ester Storage Disease and Wolman Disease
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• Fabry Disease
  • Diagnosis
  • Treatment
    • Treatment reference
  • More Information

• Gaucher Disease
  • Type I Gaucher disease
  • Type II Gaucher disease
  • Type III Gaucher disease
  • Reference
  • Diagnosis
  • Treatment
  • Key Points
  • More Information

• Krabbe Disease
  • Diagnosis and Treatment
  • More Information

• Metachromatic Leukodystrophy
  • Diagnosis
  • Treatment
  • More Information

• Niemann-Pick Disease
  • Diagnosis
  • Treatment
  • More Information

• Tay-Sachs Disease and Sandhoff Disease
  • Tay-Sachs Disease
  • Sandhoff Disease
  • More Information

• Overview of Purine and Pyrimidine Metabolism Disorders
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• Purine Catabolism Disorders
  • Myoadenylate Deaminase Deficiency (Muscle Adenosine Monophosphate Deaminase Deficiency)
  • Adenosine Deaminase Deficiency
  • Purine Nucleoside Phosphorylase Deficiency
  • Xanthine Oxidase Deficiency
  • More Information

• Purine Nucleotide Synthesis Disorders
  • Phosphoribosylpyrophosphate Synthetase Superactivity
  • Adenylosuccinase Deficiency
  • More Information

• Purine Salvage Disorders
  • Lesch-Nyhan Syndrome
  • Adenine Phosphoribosyltransferase Deficiency
  • More Information

• Pyrimidine Metabolism Disorders
  • Uridine Monophosphate Synthase Deficiency (Hereditary Orotic Aciduria)
  • More Information