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Carnitine deficiency
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
SLC22A5
SCD
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
SERVITJA_LIVER_HNF1A_TARGETS_UP
GSE3039_NKT_CELL_VS_ALPHABETA_CD8_TCELL_DN
Fatty acid desaturase type 1, conserved site
Acyl-CoA desaturase
monounsaturated fatty acid biosynthetic process
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Curated Studies
Most Correlated Studies
OMIM - Metabolic disease
Mouse Phenotypes - Metabolic disease
Mouse Phenotypes - Kidney diseases
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Carnitine deficiency.
Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency.
Carnitine deficiency and its possible risk factors in TB patients: first report.
Genotype-phenotype correlation in primary carnitine deficiency.
Acquired encephalopathy associated with carnitine deficiency after cefditoren pivoxil administration…
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Clinical Trials
Most Relevant Clinical Trials
Fat and Sugar Metabolism During Exercise, With and Without L-carnitine in Patients With Carnitine Tr…
Identification of Carnitine-Responsive Cardiomyopathy
Carnitine Levels and Carnitine Supplementation in Type I Diabetes
Carnitine Consumption and Augmentation in Pulmonary Arterial Hypertension
Oral Carnitine for Cramps in Pregnancy
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