lipid metabolism, inborn error; lipid storage disease; lipidosis

Hereditary abnormality of lipid metabolism. Classification: - based on the enzyme deficiency & type of lipid involved - sphingolipidosis make up the largest portion of recognized lipidosis, including abnormal metabolism of gangliosides, ceramides & cerebrosides Pathology: - abnormal amounts of lipid deposition - the enzymatic activity takes place in lysosomes - abnormal products appear as lysosomal storage diseases Clinical manifestations: - cramping, stiffness, & pain shortly after exertion

Specific

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; lysosomal acid lipase deficiency; 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 ligand-defective apolipoprotein B-100 familial obesity familial partial lipodystrophy fatty acid delta-6 desaturase deficiency hepatic lipase deficiency hepatic triglyceride lipase absence hyperlipoproteinemia type 1; familial hyperchylomicronemia hyperlipoproteinemia type 2 (familial hypercholesterolemia) hyperlipoproteinemia type 3; familial dysbetalipoproteinemia; remnant hyperlipidemia; remnant hyperlipoproteinaemia; broad beta disease; remnant removal disease 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 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; cerebral lipidosis Zellweger syndrome; cerebrohepatorenal syndrome

General

inborn error of metabolism lipid disorder (dyslipidemia)

References

- Medical Knowledge Self Assessment Program (MKSAP) 15, American College of Physicians, Philadelphia 2009