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Neonatal adrenoleukodystrophy

MedGen UID:
129184
•Concept ID:
C0282525
•
Disease or Syndrome
Synonyms: Adrenoleukodystrophies, Neonatal; Adrenoleukodystrophy, Autosomal Neonatal Form; Adrenoleukodystrophy, Autosomal, Neonatal Form; Adrenoleukodystrophy, Neonatal; Neonatal Adrenoleukodystrophies; Neonatal Adrenoleukodystrophy
SNOMED CT: Neonatal adrenoleukodystrophy (238061001)

Definition

A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal adrenoleukodystrophy
Follow this link to review classifications for Neonatal adrenoleukodystrophy in Orphanet.

Professional guidelines

PubMed

Genotype-phenotype correlations in disorders of peroxisome biogenesis.
Moser HW
Mol Genet Metab 1999 Oct;68(2):316-27. doi: 10.1006/mgme.1999.2926. PMID: 10527683
Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.
Powers JM, Moser HW
Brain Pathol 1998 Jan;8(1):101-20. doi: 10.1111/j.1750-3639.1998.tb00139.x. PMID: 9458170Free PMC Article
Prenatal and perinatal diagnosis of peroxisomal disorders.
Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Tager JM, van den Bosch H
J Inherit Metab Dis 1989;12 Suppl 1:118-34. doi: 10.1007/BF01799291. PMID: 2509803

Recent clinical studies

Etiology

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.
Braverman NE, D'Agostino MD, Maclean GE
Dev Disabil Res Rev 2013;17(3):187-96. doi: 10.1002/ddrr.1113. PMID: 23798008
Peroxisomal disorders.
Aubourg P, Wanders R
Handb Clin Neurol 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. PMID: 23622381
Disorders of adrenal development.
Ferraz-de-Souza B, Achermann JC
Endocr Dev 2008;13:19-32. doi: 10.1159/000134753. PMID: 18493131
The peroxisome and the eye.
Folz SJ, Trobe JD
Surv Ophthalmol 1991 Mar-Apr;35(5):353-68. doi: 10.1016/0039-6257(91)90185-i. PMID: 1710072
Peroxisomal disorders: clinical characterization.
Monnens L, Heymans H
J Inherit Metab Dis 1987;10 Suppl 1:23-32. doi: 10.1007/BF01812844. PMID: 2446046

Diagnosis

Peroxisomal disorders.
Aubourg P, Wanders R
Handb Clin Neurol 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. PMID: 23622381
Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study.
Farrell DF
Pediatr Neurol 2012 Nov;47(5):330-6. doi: 10.1016/j.pediatrneurol.2012.07.006. PMID: 23044013
Disorders of adrenal development.
Ferraz-de-Souza B, Achermann JC
Endocr Dev 2008;13:19-32. doi: 10.1159/000134753. PMID: 18493131
The peroxisome and the eye.
Folz SJ, Trobe JD
Surv Ophthalmol 1991 Mar-Apr;35(5):353-68. doi: 10.1016/0039-6257(91)90185-i. PMID: 1710072
Neonatal adrenoleukodystrophy.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Therapy

Propofol infusion syndrome or adrenoleukodystrophy?
Karaman Y, Goktay A, Agin H, Karaarslan U
Paediatr Anaesth 2013 Apr;23(4):368-70. Epub 2013 Jan 10 doi: 10.1111/pan.12113. PMID: 23302011
Plasma and red blood cell fatty acids in peroxisomal disorders.
Moser AB, Jones DS, Raymond GV, Moser HW
Neurochem Res 1999 Feb;24(2):187-97. doi: 10.1023/a:1022549618333. PMID: 9972864
Epilepsy in peroxisomal diseases.
Takahashi Y, Suzuki Y, Kumazaki K, Tanabe Y, Akaboshi S, Miura K, Shimozawa N, Kondo N, Nishiguchi T, Terada K, Orii T
Epilepsia 1997 Feb;38(2):182-8. doi: 10.1111/j.1528-1157.1997.tb01095.x. PMID: 9048670
Anaesthesia for the patient with neonatal adrenoleukodystrophy.
Schwartz RE, Stayer SA, Pasquariello CA, Lowe DA, Foster CJ
Can J Anaesth 1994 Jan;41(1):56-8. doi: 10.1007/BF03009663. PMID: 8111945
Docosahexaenoic acid--a new therapeutic approach to peroxisomal-disorder patients: experience with two cases.
Martinez M, Pineda M, Vidal R, Conill J, Martin B
Neurology 1993 Jul;43(7):1389-97. doi: 10.1212/wnl.43.7.1389. PMID: 8327143

Prognosis

Selective receptor-mediated impairment of growth factor activity in neonatal- and X-linked adrenoleukodystrophy patients.
Al-Essa M, Dhaunsi GS
J Pediatr Endocrinol Metab 2019 Jul 26;32(7):733-738. doi: 10.1515/jpem-2018-0540. PMID: 31194684
Child neurology: Zellweger syndrome.
Lee PR, Raymond GV
Neurology 2013 May 14;80(20):e207-10. doi: 10.1212/WNL.0b013e3182929f8e. PMID: 23671347Free PMC Article
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N
J Inherit Metab Dis 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743. PMID: 11405337
Genotype-phenotype correlations in disorders of peroxisome biogenesis.
Moser HW
Mol Genet Metab 1999 Oct;68(2):316-27. doi: 10.1006/mgme.1999.2926. PMID: 10527683
Neonatal adrenoleukodystrophy.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Clinical prediction guides

Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders.
Powers JM
J Mol Neurosci 2001 Apr-Jun;16(2-3):285-7; discussion 317-21. doi: 10.1385/JMN:16:2-3:285. PMID: 11478383
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N
J Inherit Metab Dis 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743. PMID: 11405337
Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies.
Wang PJ, Hwu WL, Shen YZ
J Clin Neurophysiol 2001 Jan;18(1):25-32. doi: 10.1097/00004691-200101000-00006. PMID: 11290936
Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy.
Chen WW, Watkins PA, Osumi T, Hashimoto T, Moser HW
Proc Natl Acad Sci U S A 1987 Mar;84(5):1425-8. doi: 10.1073/pnas.84.5.1425. PMID: 3469675Free PMC Article
Bile acids in peroxisomal disorders.
Van Eldere JR, Parmentier GG, Eyssen HJ, Wanders RJ, Schutgens RB, Vamecq J, Van Hoof F, Poll-The BT, Saudubray JM
Eur J Clin Invest 1987 Oct;17(5):386-90. doi: 10.1111/j.1365-2362.1987.tb01131.x. PMID: 2446876

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