Table 1.
Samples assessed in these studies
| Disease Categories (OMIM) | Mutation | Available Material CLE Human Canine Murine Repletion | |||
|---|---|---|---|---|---|
| Fatty acid availability | |||||
| Essential fatty acid deficiency | Not applicable | − | − | + | − |
| Refsum disease (266500) | PHYH | + | − | − | − |
| Fatty acid CoA esterification | |||||
| Ichthyosis prematurity syndrome (608649) | SLC27A4 (Fatp4) | + | − | + | + |
| Ichthyin deficiency (609383) | NIPAL4 | − | + | − | + |
| Acylceramide synthesis | |||||
| Neutral lipid storage disease (275630) | ABHD5 | + | − | + | + |
| ω-hydroxy-transacylation (615024) | PNPLA1 | − | + | + | + |
| Acylceramide metabolism | |||||
| ALOX mutations (607206 and 603741) | Alox12b, Aloxe3 | − | − | + | + |
| Glucosylceramide loading into lamellar bodies | |||||
| Harlequin ichthyosis (242500) | ABCA12 | + | − | + | − |
| Destruction of lamellar body contents | |||||
| Netherton syndrome (256500) | SPINK5 | + | − | − | − |
| Failure of lamellar body exocytosis | |||||
| ARKID syndrome (208085) | VPS33B | + | − | − | − |
Abbreviations: ARKID, autosomal recessive keratoderma-ichthyosis-deafness syndrome; CLE, corneocyte lipid envelope; CoA, coenzyme A.