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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
More Information
Approach to the Patient With a Suspected Inherited Disorder of Metabolism
Evaluation
History and physical examination
Initial testing
Specific and confirmatory testing
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)
Peroxisomal Disorders
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and infantile Refsum disease (IRD)
Rhizomelic chondrodysplasia punctata
X-linked adrenoleukodystrophy
Classic Refsum disease
More Information
Overview of Amino Acid and Organic Acid Metabolism Disorders
Branched-Chain Amino Acid Metabolism Disorders
Maple syrup urine disease
Isovaleric acidemia
Propionic acidemia
Methylmalonic acidemia
Methionine Metabolism Disorders
Classic homocystinuria
Other forms of homocystinuria
Cystathioninuria
Sulfite oxidase deficiency
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
Urea Cycle Disorders
Symptoms and Signs
Diagnosis
Treatment
Overview of Carbohydrate Metabolism Disorders
Fructose Metabolism Disorders
Fructose 1-phosphate aldolase (aldolase B) deficiency
Fructokinase deficiency
Deficiency of fructose-1,6-biphosphatase
Galactosemia
Galactose-1-phosphate uridyl transferase deficiency
Galactokinase deficiency
Uridine diphosphate galactose 4-epimerase deficiency
Diagnosis
Treatment
Glycogen Storage Diseases
Pyruvate Metabolism Disorders
Pyruvate dehydrogenase deficiency
Pyruvate carboxylase deficiency
Other Carbohydrate Metabolism Disorders
Overview of Fatty Acid and Glycerol Metabolism Disorders
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
Glycerol Metabolism Disorders
Overview of Lysosomal Storage Disorders
Mucopolysaccharidoses (MPS)
Sphingolipidoses
Mucolipidoses and other lysosomal disorders
Cholesteryl Ester Storage Disease and Wolman Disease
Fabry Disease
Gaucher Disease
Type I Gaucher disease
Type II Gaucher disease
Type III Gaucher disease
Diagnosis
Treatment
Key Points
Krabbe Disease
Metachromatic Leukodystrophy
Niemann-Pick Disease
Diagnosis
Treatment
Tay-Sachs Disease and Sandhoff Disease
Tay-Sachs disease
Sandhoff disease
Overview of Purine and Pyrimidine Metabolism Disorders
Purine Catabolism Disorders
Myoadenylate deaminase deficiency (or muscle adenosine monophosphate deaminase deficiency)
Adenosine deaminase deficiency
Purine nucleoside phosphorylase deficiency
Xanthine oxidase deficiency
Purine Nucleotide Synthesis Disorders
Phosphoribosylpyrophosphate synthetase superactivity
Adenylosuccinase deficiency
Purine Salvage Disorders
Lesch-Nyhan syndrome
Adenine phosphoribosyltransferase deficiency
Pyrimidine Metabolism Disorders
Uridine monophosphate synthase deficiency (hereditary orotic aciduria)