Neonatal Adrenoleukodystrophy (NALD)

Alias:
Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Intermediate Pbd-Zsd
Nald
Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy Neonatal
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neonatal Adrenoleukodystrophy, also known as intermediate peroxisome biogenesis disorder-zellweger spectrum disorder, is related to peroxisome biogenesis disorder 2b and d-bifunctional protein deficiency. An important gene associated with Neonatal Adrenoleukodystrophy is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Protein ubiquitination. The drugs Fludarabine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include liver and eye, and related phenotypes are seizure and hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
15
64
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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