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Definition

A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.

Acronym

PBD1B

Synonyms

Autosomal neonatal adrenoleukodystrophy
Infantile phytanic acid storage disease
Infantile Refsum disease
Peroxisome biogenesis disorder (NALD/IRD)
Peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)
Peroxisome biogenesis disorder 1B (NALD/IRD)

Keywords

Peroxisome biogenesis disorder

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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