Peroksizomal hastalıklar

1-Zellweger syndrome

2-Infantile Refsum disease

3-Neonatal adrenoleukodystrophy

4-Rhizomelic Chondro Dysplasia Punctata Type 1 “RCDP” Type 1

5-Heimler syndrome “sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities and occasional or late-onset retinal pigmentation”

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Genetic disorder, organelle: Peroxisomal disorders and lysosomal structural disorders

I-Peroxisome biogenesis disorder

1-Zellweger syndrome

2-Neonatal adrenoleukodystrophy

3-Infantile Refsum disease

4-Adult Refsum disease-2

5-RCP 1

II-Enzyme-related  

1-Acatalasia

2-RCP 2&3

3-Mevalonate kinase deficiency

4-D-bifunctional protein deficiency

5-Adult Refsum disease-1

III-Transporter-related     

X-linked adrenoleukodystrophy

IV-Lysosomal        

Danon disease

Peroksizomal bozukluklar, ya peroksizomun oluşumundaki defektler (A grubu) ya da tekil peroksizomal enzim eksiklikleri (B grubu) nedeniyle gelişir.