Neonatal Adrenoleukodystrophy (NALD)

Neonatal Adrenoleukodystrophy(来自ICD-11)
别称:
Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Intermediate Pbd-Zsd
Nald
Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy Neonatal
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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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参考文献
MALACARDS
AR
Newborn
1-9/100000
15
64
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