To date, we have diagnosed 83 Japanese patients with PBD, 5 with Acyl-CoA oxidase 1 deficiency, 13 with D-bifunctional protein deficiency, 2 with rhizomelic chondrodysplasia punctate (RCDP) type 2, 1 with RCDP type 3, and 237 Japanese families with ALD, including 99 patients with childhood cerebral ALD, 12 with adolescent cerebral ALD, 17 with adult cerebral ALD, 55 with adrenomyeloneuropathy, 6 with Olivo-Ponto-cerebellar ALD, 29 with Addison-only and 43 with pre-symptomatic ALD (Table 1), and 194 female carriers. Here, ACOX1 is linked to hyperinsulinemic hypoglycemia, familial, 4.