Here I present: “Systemic-Primary Carnitine-Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 系統性原生肉鹼缺乏。icd10=E71.41 (SPCD).
INTRODUCTION.
Systemic-primary carnitine-deficiency (SPCD) is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane. SPCD is inherited in an autosomal recessive manner, with mutated alleles coming from both parents. Carnitine is an important amino acid for fatty acid metabolism. When carnitine cannot be transported into tissues, fatty acid oxidation is impaired, leading to a variety of symptoms such as chronic muscle weakness, cardiomyopathy, hypoglycemia and liver dysfunction.
The specific transporter involved with SPCD is coded for by the SLC22A5 gene located on cytogenetic location 5q31.1 and genomic coordinates 5:132,369,710-132,395,612 . The screenshot of the SLC22A5 gene 25,903 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SLC22A5 in the 5q31.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:132,073,789 | CSF2 | Colony-stimulating factor-2 |
| 5:132,190,147 | P4HA2 | Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha 2 |
| 5:132,257,696 | RIL | LIM domain protein ril |
| 5:132,294,394 | SLC22A4 | Solute carrier family 22 member 4 |
| 5:132,369,710 | SLC22A5 | Solute carrier family 22 member 5 |
| 5:132,481,609 | IRF1 | Interferon regulatory factor-1 |
| 5:132,541,445 | IL5 | Interleukin-5 |
| 5:132,556,977 | RAD50 | RAD50 double strand break repair protein |
| 5:132,656,522 | IL13 | Interleukin-13 |
| 5:132,673,989 | IL4 | Interleukin-4 |
