Disease #00007 (PCD (Carnitine deficiency, systemic primary), OMIM:212140)
| Official abbreviation |
PCD |
| Name |
Carnitine deficiency, systemic primary |
| OMIM ID |
212140 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Inheritance |
- |
| Individuals reported having this disease |
- |
| Phenotype entries for this disease |
- |
| Associated with 1 gene |
SLC22A5 |
| Associated tissues |
heart muscle;skeletal muscle |
| Disease features |
Primary systemic carnitine deficiency is due to a defect in the high-affinity carnitine transporter expressed in muscle, heart, kidney, lymphoblasts, and fibroblasts. This results in impaired fatty acid oxidation in skeletal and heart muscle. In addition, renal wasting of carnitine results in low serum levels and diminished hepatic uptake of carnitine by passive diffusion, which impairs ketogenesis . If diagnosed early, all clinical manifestations of the disorder can be completely reversed by supplementation of carnitine. However, if left untreated, patients will develop lethal heart failure |
| Remarks |
- |
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