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Inherited Disorders of Metabolism
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Inherited Disorders of Metabolism
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Introduction to Inherited Disorders of Metabolism
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Approach to the Patient With a Suspected Inherited Disorder of Metabolism
Evaluation
History and physical examination
Initial testing
Specific and confirmatory testing
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Mitochondrial Oxidative Phosphorylation Disorders
Leber hereditary optic neuropathy (LHON)
Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)
Myoclonic epilepsy with ragged-red fibers (MERRF)
Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia (CPEO)
Neuropathy, ataxia, and retinitis pigmentosa (NARP)
Leigh disease (subacute necrotizing encephalopathy)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
More Information
Peroxisomal Disorders
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and infantile Refsum disease (IRD)
Rhizomelic chondrodysplasia punctata
X-linked adrenoleukodystrophy
Classic Refsum disease
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Overview of Amino Acid and Organic Acid Metabolism Disorders
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Branched-Chain Amino Acid Metabolism Disorders
Maple syrup urine disease
Isovaleric acidemia
Propionic acidemia
Methylmalonic acidemia
More Information
Methionine Metabolism Disorders
Classic homocystinuria
Other forms of homocystinuria
Cystathioninuria
Sulfite oxidase deficiency
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Phenylketonuria (PKU)
Pathophysiology
Variant forms
Symptoms and Signs
Diagnosis
Prognosis
Treatment
Key Points
More Information
Tyrosine Metabolism Disorders
Transient tyrosinemia of the newborn
Tyrosinemia type I
Tyrosinemia type II
Alkaptonuria
Oculocutaneous albinism
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Urea Cycle Disorders
Symptoms and Signs
Diagnosis
Treatment
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Overview of Carbohydrate Metabolism Disorders
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Fructose Metabolism Disorders
Fructose 1-phosphate aldolase (aldolase B) deficiency
Fructokinase deficiency
Deficiency of fructose-1,6-biphosphatase
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Galactosemia
Galactose-1-phosphate uridyl transferase deficiency
Galactokinase deficiency
Uridine diphosphate galactose 4-epimerase deficiency
Diagnosis
Treatment
More Information
Glycogen Storage Diseases
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Pyruvate Metabolism Disorders
Pyruvate dehydrogenase deficiency
Pyruvate carboxylase deficiency
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Other Carbohydrate Metabolism Disorders
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Overview of Fatty Acid and Glycerol Metabolism Disorders
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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
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Glycerol Metabolism Disorders
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Overview of Lysosomal Storage Disorders
Mucopolysaccharidoses (MPS)
Sphingolipidoses
Mucolipidoses and other lysosomal disorders
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Cholesteryl Ester Storage Disease and Wolman Disease
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Fabry Disease
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Gaucher Disease
Type I Gaucher disease
Type II Gaucher disease
Type III Gaucher disease
Diagnosis
Treatment
Key Points
More Information
Krabbe Disease
More Information
Metachromatic Leukodystrophy
More Information
Niemann-Pick Disease
Diagnosis
Treatment
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Tay-Sachs Disease and Sandhoff Disease
Tay-Sachs disease
Sandhoff disease
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Overview of Purine and Pyrimidine Metabolism Disorders
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Purine Catabolism Disorders
Myoadenylate deaminase deficiency (or 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
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Purine Salvage Disorders
Lesch-Nyhan syndrome
Adenine phosphoribosyltransferase deficiency
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Pyrimidine Metabolism Disorders
Uridine monophosphate synthase deficiency (hereditary orotic aciduria)
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