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Patients with milder form of PBDs, NALD and IRD, tend to manifest less severe biochemical abnormalities, whose specimen including skin fibroblasts likely contain residual peroxisomes, occasionally termed mosaicism.
Complementation groups (CGs) and PEX genes of peroxisome deficiencies Gene CG PBD CHO mutants US/EU Japan PEX1 1 E ZS, NALD *, IRD * Z24, ZP107 PEX2 10 F ZS, IRD * Z65 PEX3 12 G ZS ZPG208 PEX5 2 ZS, NALD ZP105 *, ZP139 PEX6 4(6) C ZS, NALD * ZP92 PEX7 11 R RCDP ZPG207 PEX10 7(5) B ZS, NALD PEX11[beta] 16 ZS PEX12 3 ZS, NALD, IRD ZP109 PEX13 13 H ZS, NALD * ZP128 PEX14 15 K ZS ZP110 PEX16 9 D ZS PEX19 14 J ZS ZP119 PEX26 8 A ZS, NALD *, IRD * ZP124, ZP167 ZP114 Gene Ps-memb.
Mi gollais i gysylltiad efo'r criw pan rois i'r gorau i'r swydd, ac ers i'r Academi gymryd mantell y CCC, does na'mcymaint o gysylltiad efo NALD yng Nghymru.