Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene.

[zellweger syndrome]

We identified the first patient with infantile Refsum disease (IRD ), a milder phenotype of peroxisome biogenesis disorder (PBD ) caused by a mutated PEX 3 , and investigated the clinical , molecular and cellular characterization in this patient . The patient presented psychomotor regression , late-onset leukodystrophy , peripheral neuropathy , hearing impairment , a renal cyst , and renal hypertension and survived until the age of 36 . Furthermore , fibroblasts from the patient indicated a mosaic pattern of catalase -positive particles (peroxisomes ) and numerous peroxisomal membrane structures . Molecular analysis was homozygous for the D 347 Y mutation and reduced gene expression of PEX 3 which encodes a peroxisomal membrane protein , pex 3 p , involved in peroxisome assembly at the early stage of peroxisomal membrane vesicle formation , therefore , patients with a mutated PEX 3 gene have been reported to have only a severe phenotype of Zellweger syndrome and no or less peroxisomal remnant membrane structure . This is not only a newly identified milder PBD caused by a mutated PEX 3 gene but also the first report of a Japanese patient with IRD who had not been diagnosed until over 30 years of age , which suggests there must be more variant PBD in patients with degenerative neurologic disorder , and to bring them to light is necessary .

Diseases
Validation

Diseases presenting "psychomotor regression" symptom

alexander disease

krabbe disease

zellweger syndrome

This symptom has already been validated