Neuromuscular

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LIPID DISORDERS 1

Classification
  Biochemical
  Clinical
General
Pathology

Lipids: General


Lipid disorders: Biochemical classification



Lipid Myopathies: Clinical classification


Disorder Gene
(Common
mutation)
Clinical, Other Muscle
  Lipid
Acylcarnitine
  Increase & Other
Carnitine
Weakness, Fixed
Carnitine deficiency SLC22A5
  (OCTN2)
Cardiomyopathy +++
Type 1
Normal Very low
SCAD ACADS
(Arg171Trp
Gly209Ser)
Ophthalmoplegia - Butyrylcarnitine (C4)
Ethylmalonic aciduria
 
Multiple acyl-CoA
  dehydrogenase (MAD)
ETFA CoQ10 deficiency +
Type 1
All lengths Low
Multiple acyl-CoA
  dehydrogenase (MAD)
ETFDH GI: Vomiting ++
Type 1
All lengths Low
Neutral lipid storage
  + Ichthyosis
(NLSDI)
ABHD5 Hepatomegaly +++
Type 1 & 2
Normal
Leukocyte
  lipid vacuoles
Normal
Neutral lipid storage
  + Myopathy
(NLSDM)
PNPLA2 Cardiomyopathy +++
Type 1 & 2
Normal
Leukocyte
  lipid vacuoles
Normal
Rhabdomyolysis ± Exercise intolerance & Cramps
CPT II deficiency CPT2
(Ser113Leu
413delAG)
  ± Long chain Normal
VLCAD ACADVL Cardiomyopathy ± Long chain Mildly low
Short-chain 3-hydroxyacyl-CoA
  dehydrogenase (SCHAD)
HADH Hepatic
Hypoclycemia
  Hydroxybutyrylcarnitine Normal
Mitochondrial trifunctional
  protein (MTP) A
HADHA Polyneuropathy ± Long-chain
Dicarboxylic &
  3-Hydroxyacylcarnitines
Low
Mitochondrial trifunctional
  protein (MTP) B
HADHB Cardiomyopathy
Hepatic
± Long-chain
Dicarboxylic &
  3-Hydroxyacylcarnitines
Low
Medium chain 3-ketoacyl-CoA
  thiolase (MCKAT)
  Hepatic
Hypoglycemia
  3-Hydroxybutyric acid
C12-C16 dicarboxylic
  acids, unsaturated
 
Medium-chain acyl-CoA
  dehydrogenase (MCAD)
ACADM
(Lys304Glu)
Hepatic ± Medium chain
Acylglycines
Low
Phosphatidic acid
  phosphatase
LIPIN1   ± Normal Normal

Lipid Biochemistry


Return to Myopathy & NMJ Index

References
1. Neuromuscular Disorders 2010;20:693–700

1/8/2011