| Disease | PEROXISOMAL DISORDERS, NEW TYPE, LIVER |
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| Gene locus |
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| genetests.org |
search search on genetest.org by MIM
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| 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 (!) |
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| Clinical symptoms | |
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Abnormal Findings in
plasma |
- Bile acid intermediates
| Significant : - increased
- C24:0/C22:0
Normal: 0.50-0.90 no unit
| Significant : 1.26-1.32 no unit
- C26:0
Normal: 0.10-0.60 µg/ml
| Significant : 0.80-0.83 µg/ml
- C26:0/C22:0
Normal: 0.01-0.02 no unit
| Significant : 0.07-0.08 no unit
- Phytanic acid
Normal: 0.00-4.00 µg/ml
| Significant : 8.30-9.60 µg/ml
- Pipecolic acid
Normal: 0.80-5.30 µmol/l
| Significant : 30.00-47.00 µg/ml
- Pristanic acid
Normal: 0.00-3.00 µmol/l
| Significant : - not detected
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Abnormal Findings in
serum |
- Very-long-chain fatty acids
| Significant : - increased
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| Treatment |
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| Literature | There are 1 publications available.
Click here to open the relevant PEROXISOMAL DISORDERS, NEW TYPE, LIVER publications |
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