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Summary
Disease
PEROXISOMAL DISORDERS, NEW TYPE, LIVER
Gene locus
Treatment
no specific treatment
Summary
case report: 2 siblings, 5 and 9 years absence of peroxysomes in approx. 90% of hepatocytes variable expression in liver and fibroblasts prenatal diagnosis: amniocytes (?) chorionic villous fibroblasts (?) amniotic fluid (!)
symptoms
athetosis
hearing defect, deafness
hypotonia
mental retardation
nystagmus
onset, childhood
progressive neurologic defect
retinitis pigmentosa
strabismus
laboratory finding
Metabolite
min
max
Norm. min
Norm. max
unit
specimen
agegroup
C26:0
0.80
0.83
0.10
0.60
-Ág/ml
plasma
C26:0/C22:0
0.07
0.08
0.01
0.02
no unit
plasma
C24:0/C22:0
1.26
1.32
0.50
0.90
no unit
plasma
Pipecolic acid
30.00
47.00
0.80
5.30
-Ág/ml
plasma
Phytanic acid
8.30
9.60
0.00
4.00
-Ág/ml
plasma
Pristanic acid
0.00
3.00
not detected
plasma
Bile acid intermediates
increased
plasma
CT, brain, abnormalities -
Peroxisomes, liver
Very-long-chain fatty acids
increased
serum
Literature
Author
Co-Author
Title
society
book
volume
number
pages
Year