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 "early stage" symptom

adrenomyeloneuropathy

allergic bronchopulmonary aspergillosis

aromatase deficiency

cadasil

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

congenital adrenal hyperplasia

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

harlequin ichthyosis

hereditary cerebral hemorrhage with amyloidosis

hodgkin lymphoma, classical

kindler syndrome

lymphangioleiomyomatosis

neonatal adrenoleukodystrophy

pyomyositis

scrub typhus

sneddon syndrome

typhoid

von hippel-lindau disease

zellweger syndrome

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