IMDs

2. Disorders of lipid metabolism and transport

2.1 Disorders of lipid metabolism

a. Disorders of fatty acyl synthesis, elongation, and recycling

  • Cytosolic acetyl-CoA carboxylase 1 deficiency
  • Mitochondrial acetyl-CoA carboxylase 2 deficiency
  • 3-Hydroxyacyl-CoA dehydratase 1 deficiency
  • Trans-2,3-enoyl-CoA reductase deficiency (Autosomal recessive intellectual disability type 14)
  • Mitochondrial malonyltransferase deficiency
  • Mitochondrial enoyl-CoA reductase deficiency (Mitochondrial enoyl-CoA reductase protein-associated neurodegeneration – MEPAN)
  • Very long-chain fatty acid elongase 1 deficiency (Ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features – IKSHD)
  • Very long-chain fatty acid elongase 4 deficiency, neurologic phenotype (Pseudo-Sjögren-Larsson syndrome, recessive; spinocerebellar ataxia type 34, dominant)
  • Very long-chain fatty acid elongase 4 deficiency, retinal phenotype (Stargardt disease type 3)
  • Very long-chain fatty acid elongase 5 deficiency (Spinocerebellar ataxia type 38)
  • Long-chain fatty acid-CoA ligase 4 deficiency (X-linked intellectual disability type 63)
  • Fatty aldehyde dehydrogenase deficiency (Sjögren-Larsson syndrome)

b. Disorders of peroxisomal fatty acid oxidation

  • X-linked adrenoleukodystrophy
  • Peroxisomal straight-chain acyl-CoA oxidase deficiency (Pseudo-neonatal adrenoleukodystrophy)
  • D-bifunctional protein deficiency (Pseudo-Zellweger syndrome, severe; Perrault syndrome type 1, milder)
  • L-bifunctional protein deficiency (Fanconi renotubular syndrome type 3)
  • Sterol carrier protein 2 deficiency (Leukoencephalopathy with dystonia and motor neuropathy)
  • Phytanoyl-CoA hydroxylase deficiency (Classic Refsum disease)

c. Disorders of eicosanoid metabolism

  • Cytosolic phospholipase A2 alpha deficiency (Cryptogenic multifocal ulcerating stenosing enteritis – CMUSE)
  • Thromboxane synthase deficiency (Ghosal hematodiaphyseal syndrome)
  • 15-hydroxy prostaglandin dehydrogenase deficiency (Primary hypertrophic osteoarthropathy type 1)
  • Prostaglandin transporter deficiency (Primary hypertrophic osteoarthropathy type 2)
  • Leukotriene C4 synthase deficiency

d. Disorders of glycerolipid metabolism

  • Lysophosphatidic acid acyltransferase deficiency (Congenital generalized lipodystrophy type 1, Berardinelli-Seip syndrome)
  • Lipin 1 deficiency
  • Lipin 2 deficiency (Majeed syndrome)
  • Diacylglycerol acyltransferase deficiency (Congenital diarrhea type 7)
  • CGI-58 deficiency (Chanarin-Dorfman syndrome; neutral lipid storage disease with ichthyosis)
  • Adipose triglyceride lipase deficiency (Neutral lipid storage disease with myopathy)
  • Perilipin 1 deficiency (Familial partial lipodystrophy type 4)
  • Perilipin 5 deficiency
  • Hormone-sensitive lipase deficiency (Familial partial lipodystrophy type 6)
  • Seipin deficiency (Congenital generalized lipodystrophy type 2; progressive encephalopathy with or without lipodystrophy – Celia’s encephalopathy)
  • Seipin superactivity (Silver syndrome – spastic paraplegia 17; distal hereditary motor neuropathy type 5)

e. Disorders of glycerophospholipid metabolism

Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
  • Ethanolaminephosphotransferase 1 deficiency
  • Choline kinase beta deficiency (Congenital muscular dystrophy, megaconial type)
  • Phosphocholine cytidylyltransferase 1 alpha deficiency, retinoskeletal phenotype
  • Phosphocholine cytidylyltransferase 1 alpha deficiency, lipodystrophy phenotype
  • Phosphocholine cytidylyltransferase 2 deficiency
  • Phosphatidylserine synthase 1 superactivity (Lenz-Majewski syndrome)
  • Phosphatidylserine flippase deficiency (Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4)
  • Lysophosphatidylinositol acyltransferase 1 deficiency
  • Phospholipase A2 group 6 deficiency (Infantile neuroaxonal dystrophy; Seitelberger disease; neurodegeneration with brain iron accumulation type 2B)
  • DDHD1 deficiency (Autosomal recessive spastic paraplegia type 28)
  • DDHD2 deficiency (Autosomal recessive spastic paraplegia type 54)
  • PNPLA6 deficiency (Autosomal recessive spastic paraplegia type 39; Oliver-McFarlane syndrome; Boucher-Neuhauser syndrome; Laurence-Moon syndrome)
  • ABHD12 deficiency (Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract syndrome – PHARC syndrome)
  • CYP2U1 deficiency (Autosomal recessive spastic paraplegia type 56)
  • Diacylglycerol kinase epsilon deficiency (Nephrotic syndrome type 7; atypical hemolytic uremic syndrome type 7)
  • Lipase H deficiency (Membrane-associated phosphatidic acid-selective phospholipase A1 deficiency – MPAPLA1 deficiency; autosomal recessive wooly hair type 2; hypotrichosis type 7)
  • Lysophosphatidic acid receptor 6 deficiency (Autosomal recessive wooly hair type 1; hypotrichosis type 8)
  • Lysophosphatidylcholine-esterified long-chain fatty acid transporter deficiency (Autosomal recessive primary microcephaly type 15)
  • Fatty acid amide hydrolase 2 deficiency
Disorders of phosphatidylinositol metabolism
  • Phosphatidylinositol-3,5-bisphosphate 5-phosphatase deficiency, neurologic phenotype (Amyotrophic lateral sclerosis type 11, dominant; Charcot-Marie- Tooth disease type 4J, recessive)
  • Phosphatidylinositol-3,5-bisphosphate 5-phosphatase deficiency, neuroskeletal phenotype (Yunis-Varon syndrome)
  • Phosphatidylinositol-4,5-bisphosphate 5-phosphatase deficiency (Lowe syndrome, Dent disease type 2)
  • Synaptojanin 1 deficiency (Early infantile epileptic encephalopathy type 53; early- onset Parkinson disease type 2)
  • Myotubularin 1 deficiency (X-linked myotubular myopathy)
  • Myotubularin-related protein 2 deficiency (Charcot-Marie-Tooth disease type 4B1)
  • Myotubularin-related protein 2 regulatory protein deficiency (Charcot-Marie-Tooth disease type 4B2)
  • Myotubularin-related protein 2 activator deficiency (Charcot-Marie-Tooth disease type 4B3)
  • Catalytic phosphatidylinositol 3-kinase subunit alpha superactivity
  • Catalytic phosphatidylinositol 3-kinase subunit delta superactivity (Immunodeficiency type 14)
  • Phosphatidylinositol 3-kinase regulatory subunit 1 deficiency (SHORT syndrome, immunodeficiency type 36)
  • Phosphatidylinositol 3-kinase regulatory subunit 2 superactivity (Megalencephaly- polymicrogyria-polydactyly-hydrocephalus syndrome type 1)
  • Phosphatidylinositol-4,5-bisphosphate 3-kinase regulatory subunit deficiency (Ataxia- oculomotor apraxia type 3)
  • Phosphatidylinositol-3-phosphate 5-kinase deficiency (Corneal fleck dystrophy)
  • VAC14 deficiency (Childhood-onset striatonigral degeneration)
  • Phosphatidylinositol-4-phosphate 5-kinase deficiency (Lethal congenital contractural syndrome type 3)
  • Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha deficiency (Oculoskeletodental syndrome)
  • Phosphatidylinositol 4-kinase type 2 alpha deficiency
  • Phosphatidylinositol 4-kinase type 3 alpha deficiency (Perisylvian polymicrogyria with cerebellar hypoplasia and arthrogryposis)
  • Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase deficiency (PTEN hamartoma tumor syndrome)
  • Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase deficiency (Opsismodysplasia)
  • Inositol polyphosphate 5-phosphatase E deficiency (Joubert syndrome type 1)
  • Inositol polyphosphate 5-phosphatase K deficiency (Congenital muscular dystrophy with cataracts and intellectual disability)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C beta 1 deficiency (Early infantile epileptic encephalopathy type 12)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C beta 3 deficiency (Spondylometaphyseal dysplasia with corneal dystrophy and developmental delay)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C beta 4 deficiency (Auriculocondylar syndrome type 2)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C gamma 2 deficiency (Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation – APLAID; familial cold autoinflammatory syndrome type 3)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C delta 1 deficiency (Nonsyndromic congenital nail disorder type 3; leukonychia totalis and/or partialis)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C epsilon 1 deficiency (Nephrotic syndrome type 3)
  • Inositol-1,4,5-triphosphate receptor type 1 deficiencyn (Gillespie syndrome; congenital non- progressive cerebellar ataxia; spinocerebellar ataxia type 15)
  • Inositol-1,4,5-triphosphate receptor type 2 deficiency (Isolated anhidrosis with normal sweat glands)
Disorders of ether lipid metabolism
  • Peroxisomal targeting signal 2 receptor deficiency (Rhizomelic chondrodysplasia punctata type 1, severe; classic Refsum disease type 2, milder)
  • Glycerone 3-phosphate acyltransferase deficiency (Rhizomelic chondrodysplasia punctata type 2)
  • Alkylglycerone 3-phosphate synthase deficiency (Rhizomelic chondrodysplasia punctata type 3)
  • Fatty acyl-CoA reductase 1 deficiency
  • Peroxin 5 long isoform deficiency (Rhizomelic chondrodysplasia punctata type 5)
  • Alkylglycerol monooxygenase deficiency

f. Disorders of sphingolipid synthesis and recycling

  • Serine palmitoyltransferase subunit 1 deficiency (Hereditary sensory and autonomic neuropathy type 1A)
  • Serine palmitoyltransferase subunit 2 deficiency (Hereditary sensory and autonomic neuropathy type 1C)
  • 3-Ketodihydrosphingosine reductase deficiency (Erythrokeratodermia variabilis et progressiva type 4)
  • Ceramide synthase 1 deficiency (Progressive myoclonic epilepsy type 8)
  • Ceramide synthase 2 deficiency
  • Ceramide synthase 3 deficiency (Autosomal recessive congenital ichthyosis type 9)
  • Dihydroceramide desaturase deficiency
  • Alkaline ceramidase 3 deficiency (Early childhood-onset progressive leukodystrophy)
  • CYP4F22 omega hydroxylase deficiency (Autosomal recessive congenital ichthyosis type 5)
  • Fatty acid transport protein 4 deficiency (Ichthyosis prematurity syndrome)
  • Acylceramide transacylase deficiency (Autosomal recessive congenital ichthyosis type 1)
  • UDP-glucose ceramide glucosyltransferase deficiency (Autosomal recessive congenital ichthyosis)
  • ABCA12 lipid transporter deficiency (Autosomal recessive congenital ichthyosis type 4)
  • Arachidonate 12-lipoxygenase, R type deficiency (Autosomal recessive congenital ichthyosis type 2)
  • Arachidonate lipoxygenase 3 deficiency (Autosomal recessive congenital ichthyosis type 3)
  • SDR9C7 deficiency (Autosomal recessive congenital ichthyosis type 13)
  • Nonlysosomal glucosylceramidase deficiency (Autosomal recessive spastic paraplegia type 46)
  • Fatty acid 2-hydroxylase deficiency (Autosomal recessive spastic paraplegia type 35; fatty acid hydroxylase-associated neurodegeneration – FAHN)
  • Sphingosine-1-phosphate lyase deficiency
  • Sphingosine-1-phosphate transporter deficiency
  • Sphingomyelin synthase 2 deficiency (Osteoporosis with calvarial doughnut lesions)

g. Disorders of sterol biosynthesis

  • Mevalonate kinase deficiency (Mevalonic aciduria, severe; hyper-IgD syndrome, milder)
  • Mevalonate kinase deficiency, porokeratosis phenotype (Porokeratosis type 3)
  • Phosphomevalonate kinase deficiency (Porokeratosis type 1)
  • Mevalonate pyrophosphate decarboxylase deficiency (Porokeratosis type 7)
  • Farnesyl diphosphate synthase deficiency (Porokeratosis type 9)
  • Geranylgeranyl pyrophosphate synthase deficiency (Atypical femoral fractures with bisphosphonates)
  • Squalene synthase deficiency (Farnesyldiphosphate farnesyltransferase 1 deficiency)
  • Lanosterol 14-alpha-demethylase deficiency
  • Lanosterol synthase deficiency (2,3-oxidosqualene-lanosterol cyclase deficiency; cataracts type 44, C-terminal; hypotrichosis simplex, N-terminal)
  • Sterol C14 reductase deficiency (Hydrops-ectopic calcification-moth-eaten dysplasia – HEM dysplasia, Greenberg dysplasia, recessive; Pelger-Huët anomaly, dominant)
  • Sterol-C4-methyl oxidase deficiency (Microcephaly, congenital cataract, and psoriasiform dermatitis)
  • Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects – CHILD syndrome)
  • CK syndrome
  • Conradi-Hünermann syndrome (X-linked dominant chondrodysplasia punctata type 2; Conradi-Hünermann-Happle syndrome)
  • Male EBP disorder with Neurologic Defects – MEND syndrome
  • Sterol Delta-5-desaturase deficiency (Lathosterolosis)
  • 24-dehydrocholesterol reductase deficiency (Desmosterolosis)
  • 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome; RSH syndrome)

h. Disorders of bile acid metabolism

  • Cholesterol 7-alpha-hydroxylase deficiency
  • 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency (Congenital bile acid synthesis defect type 1)
  • Delta-4-3-oxosteroid 5-beta-reductase deficiency (Congenital bile acid synthesis defect type 2)
  • Oxysterol 7-alpha-hydroxylase deficiency (Congenital bile acid synthesis defect type 3; autosomal recessive spastic paraplegia type 5A)
  • Sterol 27-hydroxylase deficiency (Cerebrotendinous xanthomatosis)
  • PMP70 deficiency (Congenital bile acid synthesis defect type 5)
  • Alpha-methylacyl-CoA racemase deficiency – AMACR deficiency (Congenital bile acid synthesis defect type 4)
  • Peroxisomal branched-chain acyl-CoA oxidase deficiency (Congenital bile acid synthesis defect type 6)
  • Bile acid-CoA:amino acid N-acyltransferase deficiency
  • Bile acid CoA ligase deficiency
  • Phosphatidylserine translocator deficiency (Progressive familial intrahepatic cholestasis type 1, severe; benign recurrent intrahepatic cholestasis type 1, milder)
  • Bile salt export pump deficiency (Progressive familial intrahepatic cholestasis type 2, severe; benign recurrent intrahepatic cholestasis type 2, milder)
  • Phosphatidylcholine translocator deficiency (Progressive familial intrahepatic cholestasis type 3, severe; low phospholipid-associated cholelithiasis, milder)
  • Bile acid receptor deficiency (Progressive familial intrahepatic cholestasis type 5)
  • Apical bile salt transporter deficiency (Primary bile acid malabsorption)
  • Sodium-taurocholate cotransporting polypeptide (NTCP) deficiency

2.2 Disorders of lipoprotein metabolism

a. Hypercholesterolemias

  • LDL receptor deficiency (Familial hypercholesterolemia)
  • LDL receptor adaptor protein 1 deficiency
  • Hypercholesterolemia due to ligand-defective apo B
  • PCSK9 superactivity (Familial hypercholesterolemia type 3)
  • STAP1 deficiency (Familial hypercholesterolemia type 4)
  • Sitosterolemia due to ABCG5 deficiency
  • Sitosterolemia due to ABCG8 deficiency

b. Hypertriglyceridemias

  • Lipoprotein lipase deficiency (Hyperlipoproteinemia type 1A)
  • Apolipoprotein C2 deficiency (Hyperlipoproteinemia type 1B)
  • GPIHBP1 deficiency (Hyperlipoproteinemia type 1D)
  • Lipase maturation factor 1 deficiency (Combined lipase deficiency)
  • Apolipoprotein A5 deficiency (Late-onset hyperchylomicronemia; hyperlipoproteinemia type 5)

c. Mixed hyperlipidemias

  • Apolipoprotein E deficiency (Dysbetalipoproteinemia; hyperlipoproteinemia type 3)
  • Apolipoprotein E superactivity (Inherited lipemic splenomegaly; sea-blue histiocytosis)
  • Lipoprotein glomerulopathy
  • Hepatic lipase deficiency

d. Disorders of high-density lipoprotein (HDL) metabolism

  • Lecithin:cholesterol acyltransferase deficiency (Norum disease, severe; fish-eye disease, milder)
  • Tangier disease (Analphalipoproteinemia)
  • Apolipoprotein A1 deficiency (Hypoalphalipoproteinemia)
  • Cholesteryl ester transfer protein deficiency (Hyperalphalipoproteinemia type 1)
  • Apolipoprotein C3 deficiency (Hyperalphalipoproteinemia type 2)
  • SCARB1 deficiency

e. Disorders with decreased low-density lipoprotein (LDL) and/or triglycerides

  • Apolipoprotein B deficiency
  • PCSK9 deficiency (Familial hypercholesterolemia type 3)
  • Angiopoietin-like 3 deficiency (Familial hypobetalipoproteinemia type 2; combined familial hypolipidemia)
  • Microsomal triglyceride transfer protein deficiency (Abetalipoproteinemia)
  • Chylomicron retention disease (Anderson disease)

f. Other disorders of lipoprotein metabolism

  • Very low-density lipoprotein receptor deficiency
  • Hereditary apolipoprotein A1-related amyloidosis
  • Elevated lipoprotein(a)

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