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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)
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)
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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)
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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
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
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Tyrosine Metabolism Disorders
Transient Tyrosinemia of the Newborn
Tyrosinemia Type I
Tyrosinemia type I reference
Tyrosinemia Type II
Alkaptonuria
Oculocutaneous Albinism
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Urea Cycle Disorders
Symptoms and Signs
Diagnosis
Treatment
Treatment reference
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Overview of Carbohydrate Metabolism Disorders
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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
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Glycogen Storage Diseases
Reference
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Pyruvate Metabolism Disorders
Pyruvate Dehydrogenase Deficiency
Pyruvate Carboxylase Deficiency
Pyruvate carboxylase deficiency reference
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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
Diagnosis
Treatment
Treatment reference
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Gaucher Disease
Type I Gaucher disease
Type II Gaucher disease
Type III Gaucher disease
Reference
Diagnosis
Treatment
Key Points
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Krabbe Disease
Diagnosis and Treatment
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Metachromatic Leukodystrophy
Diagnosis
Treatment
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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 (Muscle Adenosine Monophosphate Deaminase Deficiency)
Adenosine Deaminase Deficiency
Purine Nucleoside Phosphorylase Deficiency
Xanthine Oxidase Deficiency
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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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