Synonyms: Intermediate PBD-ZSD | Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder | NALD
A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia leukodystrophy and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2026
Newly diagnosed with
Neonatal adrenoleukodystrophy?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Adrenal Insufficiency united
Helping find resources and navigating the health system
Alex, The Leukodystrophy Charity
Support and access to treatment for everyone living with leukodystrophy Provide support for those living with leukodystrophy, and their families/carers Raise awareness of leukodystrophy Improve best practice in prevention, diagnosis & treatment Support research initiatives
Charcot-Marie-Tooth Association
Our mission … to support the development of new treatments for CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision … a world without CMT. CMTA was started by patients in 1986, and to this day is powered by a community of patients who are engaged in helping carry out and support our mission.
Cure LBSL
Our Mission Find a cure for LBSL, advance awareness of the disease, and support patients, families, and medical providers confronted with this ultra-rare condition.
Genetic Epilepsy Team Australia
Collaboration of research and care
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
The Global Foundation For Peroxisomal Disorders
To improve the lives of individuals with Peroxisomal Disorders by funding research, championing scientific collaboration, and empowering families and professionals through educational programs and support services.
United Leukodystrophy Foundation
OUR MISSION is to provide support to the leukodystrophy community and enable platforms to accelerate improving patient quality of life and finding cures.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.