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Abbreviations: CG: complementation group; CHO: Chinese hamster ovary; DHAP-ATase: dihydroxyacetonephosphate acyltransferase; DLP1: dynamin-like protein 1; IRD: infantile Refsum disease; NALD: neonatal adrenoleukodystrophy; PBD: peroxisome biogenesis disorder; PMP: peroxisomal integral membrane protein; PTS: peroxisome-targeting signal; RCDP: rhizomelic chondrodysplasia punctata; ZS: Zellweger syndrome.
Zellweger syndrome is a condition that affects one in 50,000 children worldwide and leads to progressive deterioration and death.
Experts in Holland, where some of Millie's tests were sent for analysis, confirmed she had Zellweger Syndrome two months ago.
Here, visitors can learn more about what clinical trials really are; those who wish to participate in a clinical trial can choose from an extensive list of neurological conditions, from ADHD to Zellweger syndrome, to see what research is in progress or coming up at the NINDS and elsewhere across the country.
The peroxisome biogenesis disorders (PBDs) represent a continuum of clinical features ranging from the most severe form, Zellweger syndrome, through neonatal adrenoleukodystrophy to the least severe form, infantile Refsum disease.
A daughter, Hope, had been born with a rare disorder called Zellweger syndrome. She died at 6 months.
Differential diagnosis includes trisomy 13, Zellweger syndrome, Agostino syndrome and Jeune syndrome.
Non-ketotic hyperglycemia, propionic aciduria, methylmalonic acidemia, D-glyceric acidemia, sulfite and xanthine oxidase deficiency, Menkes disease and Zellweger syndrome are the main metabolic disorders which are known to cause this disease.
ZELLWEGER syndrome is an inherited condition that damages the white matter of the brain.
The following situations should be considered in the differential diagnosis of CDP: peroxisomal diseases (Zellweger Syndrome, Adrenoleukodystrophy and Infantile Refsum disease), maternal exposure to warfarin, Smith-Lemli-Opitz Syndrome, and foetal alcohol syndrome.