lipid metabolism, inborn error; lipid storage disease; lipidosis

Introduction

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

More general terms

• inborn error of metabolism
• lipid disorder (dyslipidemia)

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; lysosomal acid lipase deficiency; Wolman's disease
• cholesteryl ester transfer protein (CETP) deficiency
• chylomicron retention disease (Anderson disease)
• congenital adrenal hyperplasia (21-hydroxylase 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