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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

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
Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders.
Osumi T, Imamura A, Tsukamoto T, Fujiwara C, Hashiguchi N, Shimozawa N, Suzuki Y, Kondo N
Cell Biochem Biophys 2000;32 Spring:165-70. doi: 10.1385/cbb:32:1-3:165. PMID: 11330043
Peroxisome biogenesis disorders: genetics and cell biology.
Gould SJ, Valle D
Trends Genet 2000 Aug;16(8):340-5. doi: 10.1016/s0168-9525(00)02056-4. PMID: 10904262
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
Disorders of adrenal development.
Ferraz-de-Souza B, Achermann JC
Endocr Dev 2008;13:19-32. doi: 10.1159/000134753. PMID: 18493131
Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders.
Osumi T, Imamura A, Tsukamoto T, Fujiwara C, Hashiguchi N, Shimozawa N, Suzuki Y, Kondo N
Cell Biochem Biophys 2000;32 Spring:165-70. doi: 10.1385/cbb:32:1-3:165. PMID: 11330043
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
Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.
Brown FR 3rd, McAdams AJ, Cummins JW, Konkol R, Singh I, Moser AB, Moser HW
Johns Hopkins Med J 1982 Dec;151(6):344-51. PMID: 7176294

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

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
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y
Am J Hum Genet 2003 Aug;73(2):233-46. Epub 2003 Jul 8 doi: 10.1086/377004. PMID: 12851857Free PMC Article
Urinary organic acids in peroxisomal disorders: a simple screening method.
Yamaguchi S, Iga M, Kimura M, Suzuki Y, Shimozawa N, Fukao T, Kondo N, Tazawa Y, Orii T
J Chromatogr B Biomed Sci Appl 2001 Jul 5;758(1):81-6. doi: 10.1016/s0378-4347(01)00102-5. PMID: 11482738
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
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

Urinary organic acids in peroxisomal disorders: a simple screening method.
Yamaguchi S, Iga M, Kimura M, Suzuki Y, Shimozawa N, Fukao T, Kondo N, Tazawa Y, Orii T
J Chromatogr B Biomed Sci Appl 2001 Jul 5;758(1):81-6. doi: 10.1016/s0378-4347(01)00102-5. PMID: 11482738
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
Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts.
Biermann J, Gootjes J, Wanders RJ, van den Bosch H
IUBMB Life 1999 Dec;48(6):635-9. doi: 10.1080/713803571. PMID: 10683770
Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency.
de Vet EC, Ijlst L, Oostheim W, Wanders RJ, van den Bosch H
J Biol Chem 1998 Apr 24;273(17):10296-301. doi: 10.1074/jbc.273.17.10296. PMID: 9553082

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