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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

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