What is NALD or Neonatal Adrenoleukodystrophy?
NALD is an inborn error of peroxisome biogenesis. It is part of the Zellweger spectrum and has an autosomal recessive pattern of inheritance.
What Are the Symptoms?
- Hearing loss
- Peripheral neuropathy
- Mild facial dysmorphism
- Failure to thrive
- Severely delayed physical and cognitive development
- Eye issues including chorioretinopathy, optic nerve dysplasia and cataracts
- Liver failure
- Adrenal insufficiency
- Kidney stones
How Do You Get NALD?
PBD-ZSS is caused by mutations in one of 13 PEX genes which encode peroxins. Mutations in these genes lead to abnormal peroxisome biogenesis.
How Is NALD Diagnosed?
This disorder is diagnosed through examination of physical symptoms and confirmed with biochemical evaluation. MRI can be used to identify leukodystrophy and other brain malformations.
Is There a Treatment?
There is no known cure for NALD. Treatment is symptomatic and may include cataract removal in early infancy, glasses to improve vision, hearing aids or cochlear implants, vitamin K supplements, primary bile acid therapy to improve liver function, g-tube for nutrition, and epileptic drugs for seizures. The patient will need lifelong monitoring of hearing, vision, and liver function.