PEROXISOMAL DISORDERS, NEW TYPE, LIVER

Question 1

What is  PEROXISOMAL DISORDERS, NEW TYPE, LIVER?

Accepted Answer

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 (!)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Peroxisomale Erkrankung, neuer Typ, Leberbeteiligung

Disease	PEROXISOMAL DISORDERS, NEW TYPE, LIVER
Gene locus
ICD
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 (!)
Laboratory findings	Bile acid intermediates inc (plasma) C24:0/C22:0 inc (plasma) C26:0 inc (plasma) C26:0/C22:0 inc (plasma) Phytanic acid inc (plasma) Pipecolic acid inc (plasma) Pristanic acid inc (plasma) Very-long-chain fatty acids inc (serum)
Symptoms	athetosis CT, brain, abnormalities [-] hearing defect, deafness hypotonia mental retardation nystagmus onset, childhood Peroxisomes, liver progressive neurologic defect retinitis pigmentosa strabismus