Here I present: “Peroxisome Biogenesis Disorders”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PBD4B) 超毒體生物發生障礙。icd10=E71.51
INTRODUCTION.
A peroxisome is a membrane-bound organelle, found in the cytoplasm of virtually all cells. Peroxisomes are oxidative organelles. Frequently, molecular oxygen serves as a co-substrate, from which hydrogen peroxide (H2O2) is then formed. Peroxisomes owe their name to hydrogen peroxide generating and scavenging activities. They perform key roles in lipid metabolism and the reduction of reactive oxygen species.
Peroxisome biogenesis disorder type-4B (PBD4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease, which represent milder manifestations of the Zellweger syndrome spectrum of peroxisome biogenesis disorders (PBD). The clinical course of patients with the presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the presentation may reach adulthood.
There is evidence that this form of peroxisome biogenesis disorder type-4B (PBD4B) is caused by homozygous or compound heterozygous mutation in the peroxisome factor-6 (PEX6) gene on cytogenetic location 6p21.1 and 6:42,963,865-42,979,181. The screenshot of the PEX6 gene 15,317 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PEX6 in the 6p21.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:42,879,616 | RPL7L1 | Ribosomal protein L7-like 1 |
| 6:42,916,053 | PTCRA | Pre-T-cell receptor, alpha-chain precursor |
| 6:42,928,002 | CNPY3 | Canopy 3, zebrafish, homolog of |
| 6:42,960,754 | GNMT | Glycine N-methyltransferase |
| 6:42,963,865 |
PEX6 |
Peroxisome biogenesis factor 6 |
| 6:42,984,570 | PPP2R5D | Protein phosphatase-2, regulatory subunit B delta |
| 6:43,011,143 | MEA1 | Male-enhanced antigen 1 |
| 6:43,014,249 | KLHDC3 | Kelch domain-containing protein 3 |
| 6:43,021,623 | RRP36 | Ribosomal RNA-processing factor, 36 |
| 6:43,037,617 | CUL7 | Cullin 7 |
