Carnitine Disorders

MitochondrialAutosomal RecessiveAutosomal DominantVariableSystemic/MultisystemOMIM 201460

Overview

From WUSTL Neuromuscular

Biochemistry Fatty acid & Carnitine transport pathways Fatty acid oxidation pathways General principles 1° Carnitine deficiencies Multiple acyl�CoA dehydrogenase deficiency Reduced Muscle carnitine uptake Myopathic Renal (OCTN2; SLC22A5) Systemic disorders 2° carnitine deficiencies Carnitine-acylcarnitine translocase deficiency CPT II deficiency Carnitine Carnitine metabolism: General principles Carnitine: General Sources Dietary (75%): Meat, fish, dairy products Synthesis: Endogenous From lysine & methionine in liver, brain & kidney Synthetic pathway not present in muscle or heart Distributio

OMIM Entries

OMIM #201460 OMIM #201450 OMIM #212140 OMIM #255120 OMIM #255110 OMIM #201470 OMIM #212160 OMIM #603377 OMIM #600650 OMIM #600528 OMIM #601987 OMIM #600649 OMIM #608836 OMIM #614212 OMIM #613698 OMIM #212138 OMIM #231680 OMIM #608053 OMIM #255100 OMIM #610595 OMIM #606885 OMIM #255320

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.