We present an 18 year old female with variant Zellweger syndrome. She presented at age 5 months with hypotonia, and failure to thrive. She was diagnosed at age 8 months on biochemical findings. Molecular analysis at 13 yrs showed compound heterozygosity for c.2528 G>A (p. Gly843Asp) and IVS2+1 G>A mutations. The child participated in a number of clinical treatment trials including Cholic acid and Docosahexanoic acid supplementation. She eats a low phytanic acid diet and takes vitamin K. She had a cochlear implant placed at 15 years resulting in marked improvement in her behavior. Currently she is ambulatory with support. She is functionally blind and is dependent for feeding, toiletry, dressing and all aspects of daily life. She has asymptomatic nephrocalcinosis and liver fibrosis. She has biochemically adequate adrenal function but with hypotension requiring glucocorticoids during illness. She has significant osteopenia. There is periventricular leukodystrophy. Her course has been slowly progressive and although generally healthy she is very fragile during illness. Currently the family is transitioning her to adult sheltered care. There are few reports of clinical outcome in long term survivors with PBD. Most have either one or 2 copies of the Gly843Asp mutation as in this child. Background: In peroxisomal disorders, accumulation of branched-chain fatty acids or bile acids intermediates can lead to severe neurological disease. SCPx is the last enzyme of the peroxisomal beta-oxidation system and until now, only one patient with SCPx deficiency has been described. Clinical description: The female patient presented at the age of 58 years with weakness of limbs, symmetrical sensory neuropathy, ataxia and moderate neuropsychological dysfunctions. Brain MRI demonstrated leukoencephalopathy. Metabolic investigations revealed increased levels of pristanic acid, whereas phytanic acid and very long-chain fatty acids were normal. The bile acid intermediates DHCA and THCA were undetectable, but there was excretion of abnormal bile alcohol glucuronides in urine. Fibroblast studies and SCP2 gene mutation analysis confirmed the diagnosis of SCPx deficiency. There was no clinical improvement on a phytanic acid restricted diet during six months. Discussion and conclusion: Like the first SCPx-deficient patient, this patient presented with neurologic symptoms but the onset was during adulthood. Most likely, SCPx deficiency is underdiagnosed, even if a peroxisomal disorder is considered, because the biochemical abnormalities are limited, and only analyzed in specialized laboratories. The excretion of bile alcohol glucuronides was similar in both SCPx-deficient patients and can be considered typical for this disorder.