Lipid Metabolism Inborn Error

From Anvita Health Wiki

Contents 1 More Specific Terms 2 Clinical-manifestations 3 More General Terms 4 References

More Specific Terms

• 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency)
• 3-alpha-hydroxyacyl-CoA-dehydrogenase deficiency (HAD deficiency)
• 3-beta-hydroxysteroid dehydrogenase deficiency
• alpha-methylacyl-CoA racemase (AMACR) deficiency
• beta lipoprotein deficiency
• beta-sitosterolemia; phytosterolemia; shellfish sterolemia
• carnitine palmitoyltransferase deficiency
• cerebrotendinous xanthomatosis
• cholesterol ester storage disease (Wolman's disease)
• cholesteryl ester transfer protein (CETP) deficiency
• chylomicron retention disease (Anderson disease)
• congenital adrenal hyperplasia (21-hydroxlase deficiency)
• congenital disorder of glycosylation 2b (CDG2b); glucosidase 1 deficiency
• congenital hemidysplasia with ichthyosiform erythroderma & limb defects (CHILD syndrome)
• congenital lipodystrophy
• Dorfman-Chanarin syndrome; triglyceride storage disease with impaired long-chain fatty acid oxidation; neutral-lipid-storage disease with ichthyosis
• familial combined hyperlipidemia
• familial HDL deficiency (familial hypoalphalipoproteinemia)
• familial hyperinsulinemic hypoglycemia; persistent hyperinsulinemic hypoglycemia of infancy (PHHI); congenital hyperinsulinism
• familial hyperliproteinemia, other
• familial obesity
• familial partial lipodystrophy
• fatty acid delta-6 desaturase deficiency
• hepatic lipase deficiency
• hepatic triglyceride lipase absence
• hyper IgD syndrome; hyperimmunoglobulinemia D & periodic fever syndrome; HIDS
• hyperlipoproteinemia type 1; familial hyperchylomicronemia
• hyperlipoproteinemia type 2 (familial hypercholesterolemia)
• hyperlipoproteinemia type 3 (dysbetalipoproteinemia)
• hyperlipoproteinemia type 4
• hyperlipoproteinemia type 5
• lathosterolosis
• lecithin-cholesterol acyltransferase [LCAT] deficiency (Norum disease)
• leukotriene C4 synthase deficiency (LTC4 synthase deficiency)
• long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency)
• long-chain acyl-CoA dehydrogenase deficiency (LCAD deficiency)
• malonyl-CoA decarboxylase deficiency (MLYCD deficiency)
• medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency)
• MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis & Stroke-like episodes) syndrome
• mevalonicaciduria
• mucolipidosis
• myoclonic epilepsy associated with ragged-red fibers (MERRF) syndrome
• neutral lipid storage disease with myopathy (neutral lipid storage disease without ichthyosis)
• platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency)
• pulmonary alveolar phospholipoproteinosis (alveolar proteinosis, pulmonary surfactant metabolism dysfunction, inborn error of pulmonary surfactant metabolism)
• short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency)
• sphingolipidosis (sphingolipodystrophy)
• Zellweger syndrome; cerebrohepatorenal syndrome

Clinical-manifestations

• cramping, stiffness, & pain shortly after exertion

More General Terms

• inborn error of metabolism
• lipid disorder (dyslipidemia)

References

- Medical Knowledge Self Assessment Program (MKSAP) 15, American College of Physicians, Philadelphia 2009 lipid metabolism, inborn error (lipid storage disease)