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The clinica biochemical, and histopathologic abnormalities characteristic of this newly recognized form of adrenoleukodystrophy are analyzed in detail and compared to the principal characteristics of the similar disorder, the cerebrohepatorenal syndrome of Zellweger (ZS). Using strict pathologic criteria for the diagnosis of NALD, we find that, despite many clinical resemblances, NALD and the ZS are distinguishable on the basis of histology and peroxisomal biochemistry. Patients with NALD demonstrate adrenal atrophy, systemic infiltration by abnormal lipid\u2010laden macrophages, and elevations of saturated VLCFA. In contrast, patients with ZS have chondrodysplasia, glomerulocystic disease of the kidney, central nervous system dysmyelination, and elevations of unsaturated as well as saturated VLCFA, but they lack adrenal atrophy. We conclude that NALD and the ZS probably represent at least two different genetic defects.<\/jats:p>","DOI":"10.1002\/ajmg.1320230404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:03:36Z","timestamp":1118520216000},"page":"869-901","source":"Crossref","is-referenced-by-count":186,"title":["Neonatal adrenoleukodystrophy: New cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes"],"prefix":"10.1002","volume":"23","author":[{"given":"Richard I.","family":"Kelley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nabanita S.","family":"Datta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amiya K.","family":"Hajra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann B.","family":"Moser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Noetzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugo W.","family":"Moser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-197605000-00002"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S0022-2275(20)38027-5","article-title":"Separation and quantitation of free fatty acids and fatty acid methyl esters by reverse phase high pressure liquid chromatography","volume":"24","author":"Alvedano MI","year":"1983","journal-title":"J Lipid Res"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.100.5.1789"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1982.00510230039011"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278712"},{"issue":"4","key":"e_1_2_1_7_1","first-page":"35","article-title":"The renal lesion in syndromes of multiple congenital malformations. 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