Lipid Metabolism, Inborn Errors

Related topics on Genetics Home Reference:

• 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• abetalipoproteinemia
• beta-ketothiolase deficiency
• carnitine-acylcarnitine translocase deficiency
• carnitine palmitoyltransferase 2 deficiency
• carnitine palmitoyltransferase I deficiency
• cerebrotendinous xanthomatosis
• Chanarin-Dorfman syndrome
• cholesteryl ester storage disease
• chylomicron retention disease
• Fabry disease
• familial lipoprotein lipase deficiency
• Farber lipogranulomatosis
• Gaucher disease
• GM2-gangliosidosis, AB variant
• juvenile Batten disease
• Krabbe disease
• long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• medium-chain acyl-coenzyme A dehydrogenase deficiency
• metachromatic leukodystrophy
• mitochondrial trifunctional protein deficiency
• neutral lipid storage disease with myopathy
• Niemann-Pick disease
• primary carnitine deficiency
• Sandhoff disease
• short-chain acyl-coenzyme A dehydrogenase deficiency
• Smith-Lemli-Opitz syndrome
• Tangier disease
• Tay-Sachs disease
• very long-chain acyl-coenzyme A dehydrogenase deficiency
• Wolman disease
• X-linked adrenoleukodystrophy

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