“Peroxisome Biogenesis Disorders”, Victor McKusick, Mendelian Inheritance in Man, 1966. 超毒體生物發生障礙 。(PBD4B) icd10=E71.51

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