Medline NLM definition: A rare, autosomal recessive congenital syndrome of multiple abnormalities. Some of the principal characteristics are cerebral dysfunction, defective myelinization, craniofacial abnormalities, renal cysts, hepatomegaly, and biliary dysgenesis. Absence of liver and kidney peroxisomes is the underlying basic defect.
Zellweger syndrome: factsheet from NINDS, the National Institute of Neurological Disorders and Stroke information (US site)
See also the page on Leukodystrophy on this website.
PubMed Medicine search on Zellweger syndrome
Metabolic Support UK
Metabolic Support UK (formerly known as Climb - Children Living with Inherited Metabolic Diseases) are the leading patient organisation for Inherited Metabolic Disorders supporting thousands of patients worldwide.
Has information on over 1,000 rare syndromes and rare disorders and can put families in touch with each other. Also gives access to a database on rare conditions and disorders.
The Global Foundation for Peroxisomal Disorders (GFPD)
The mission of the GFPD is to fund and promote peroxisome disorder research and to assist families and professionals through educational programs and support services related to Zellweger spectrum disorders. (US site)
Brain and Spine Foundation
Information on living with a neurological condition and on diagnosis. There are publications and resources. The useful glossary of neurological conditions (under 'Information and support') includes links to some other organisations as well as to Brain and Spine Foundation information.
Collective voice for 80 organisations, including stroke and brain injury. Organisations are listed at https://www.neural.org.uk/our-members/, a good place to start if looking for information on those conditions. Site also includes information about living with a neurological condition, a glossary, and information about onset and diagnosis as well as a small set of real life stories.
NHS Inform: brain, nerves and spinal cord
NHS inform is Scotland's national health information service, with the aim of providing the people in Scotland with accurate and relevant information to help them make informed decisions about their own health and the health of the people they care for.