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Lipids: General

MitochondrialSystemic/MultisystemOMIM 600691
W
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Overview

From WUSTL Neuromuscular

Basic molecules: Fatty acids Fatty acid definitions Short chain: 4 to 8 carbons (C4 - C8) Medium chain: C8 � C12 Long chain: C12/C14 - C20: Examples Palmitic: C16 Stearic: C18 Linoleic: C18 Oleic: C18; Abundant in PN myelin Very long chain (VLC): > C22 Lipid in muscle Abundance: 0.2% of muscle fiber Location: Type 1 > Type 2 muscle fibers Fatty acids: Metabolism Metabolic pathways Mitochondria β-oxidation Most ATP production FA type: < C20 Peroxisome β-oxidation FA type: > C20 Microsome: ω & ω-1 oxidation Muscle FA type: Saturated long-chain Steps Entrance into cell cytoplasm: Through sarcopla

OMIM Entries

OMIM #600691OMIM #604194OMIM #138150OMIM #212138OMIM #173510OMIM #134651OMIM #604780OMIM #151750OMIM #609699

Related Conditions

Shared genes
Brachial Plexus: Structure
C8C7C6
Brachioradial Pruritis
C6C8
Chorea-Acanthocytosis (Neuroacanthocytosis; CHAC)
BPER

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.