Front, Search, Index, Links, Pathology, Molecules, Syndromes, Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info

LIPID DISORDERS

Biochemical classification

• 1° Carnitine deficiencies: Deficient transport of carnitine
  • Carnitine acetyltransferase deficiency
    
  • CPT II deficiency
  • Multiple acyl–CoA dehydrogenase deficiency
    
  • Reduced Muscle carnitine uptake
    
  • Myopathic
    
  • Renal
    
  • Systemic disorders
    
• 2° Carnitine deficiencies: Carnitine loss
  • Acyl-CoA dehydrogenase deficiencies
    
    • SCAD
    • MCAD
    • MCKAT
    • LCAD
    • VLCAD
    • LCHADD
    • Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
  • Carnitine-acylcarnitine translocase deficiency
  • Electron transfer flavoproterin (ETF) deficiency (Riboflavin-responsive)
    
  • Trifunctional enzyme deficiencies A & B
  • 2,4-Dienoyl-CoA reductase deficiency
• Other lipid metabolism disorders
  • Pantothenate metabolism
    • Neurodegeneration with brain iron accumulation I : Pantothenate kinase 2
  • Refsum disease: Phytanoyl-CoA hydrolase
  • X-linked ichthyosis : Steroid sulfatase
  • Sjögren-Larssen syndrome: FALDH
  • Chondrodysplasia punctata 2, X-linked dominant : 3β-hydroxysteroid-δ³,δ⁷-isomerase
  • Triglyceride storage disease with impaired long-chain fatty acid oxidation (NCIE2)
  • Isotretinoin toxicity
  • Nonsyndromic X-linked mental retardation (MRX63) : Fatty acid CoA ligase, long-chain 4 (FACL4)
  • Mitochondrial disorders
    • Coenzyme Q10 deficiency
• Also see
  • Lipodystrophy
  • Peroxisomal disorders

Lipid Myopathies: Clinical classification

• Fixed weakness
  • OCTN2: Carnitine transporter
  • SCAD
  • MCAD
  • Multiple acyl–CoA dehydrogenase deficiency (GA II)
  • Triglyceride storage disease with impaired long-chain fatty acid oxidation
  • Neutral lipid storage disease with myopathy
• Exercise intolerance, Cramps & Myoglobinuria
  • CPT II deficiency
  • VLCAD
  • Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • Trifunctional enzyme deficiencies A & B
  • MCKAT

Lipid Biochemistry

• Fatty acid & Carnitine transport pathways
• Fatty acid oxidation pathways
• Carnitine disorders