Cited by 219Metabolism and Genetic DisordersGenetic and rare skin diseases.Neurological diseases and metabolism

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Neonatal adrenoleukodystrophy: New cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

Kelley, Richard I., Datta, Nabanita S., Dobyns, William B., Hajra, Amiya K., Moser, Ann B., Noetzel, Michael J., Zackai, Elaine H., Moser, Hugo W., Opitz, John M., Reynolds, James F.·1986·American Journal of Medical Genetics

DOI 10.1002/ajmg.1320230404

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Abstract

Eight new cases of autopsy-confirmed or suspected neonatal adrenoleukodystrophy (NALD) are presented together with new biochemical data on very-long-chain fatty acids (VLCFA) and plasmalogens and a review of all previously published cases. The clinical, 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-laden 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.

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The Cerebrohepatorenal (Zellweger) Syndrome
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Authors: Kelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W., Opitz, J. M., & Reynolds, J. F.
Affiliations: Children's Hospital of Philadelphia (US)
University of Michigan (US)
Medical College of Wisconsin (US)
St. Louis Children's Hospital (US)
Corresponding author: Kelley, Richard I.
ORCID: Kelley, Richard I.
Dobyns, William B.
Moser, Ann B.
Zackai, Elaine H.
Opitz, John M.
Reynolds, James F.
Venue: American Journal of Medical Genetics
Publisher: Wiley
Published: 1986-04
Volume: 23
Issue: 4
Pages: 869-901
ISSN: 0148-7299 (ISSN-L)
1096-8628
DOI: 10.1002/ajmg.1320230404
OpenAlex: W1985487919
Cited by: 219
References: 72
Citations by year: 2025: 2 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 2 · 2019: 3 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 3 · 2014: 1 · 2013: 4 · 2012: 9
FWCI: 20.57
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 7003 d)
Locations: American Journal of Medical Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: National Center for Research Resources (RR 000 52)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD00502, HD-10981)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords: neonatal adrenoleukodystrophy, Zellweger syndrome, peroxisomal disorders, very long chain fatty acids, plasmalogens, adrenal atrophy, lipid-laden macrophages, chondrodysplasia, glomerulocystic kidney disease, dysmyelination, differential diagnosis, genetic disorders
MeSH terms: Abnormalities, Multiple, Adrenal Gland Diseases, Adrenoleukodystrophy, Cerebral Cortex, Diffuse Cerebral Sclerosis of Schilder, Child, Child, Preschool, Diagnosis, Differential, Face, Female, Humans, Infant, Infant, Newborn, Kidney, Liver, Liver Diseases, Macrophages, Male, Microbodies, Skull, Syndrome

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Neonatal adrenoleukodystrophy: New cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

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