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Summary
NARP SYNDROME
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
551500
OMIM = Online Medalian Inheritance of Men
644
unkwown
rare mitochondrial inheritance
symptoms
apnea
ataxia
blindness, visual loss, visual impairment
dementia
early death
encephalopathy
mental retardation
muscle weakness
peripheral neuropathy
retinitis pigmentosa
seizures
laboratory finding
Citrulline 10.0045.00normal/decreasedplasma
Literature
Gibson KMCraigen W, Herman GE, Jakobs CD-2-Hydroxyglutaric Aciduria in a Newborn with Neurological Abnormalities: A New Neurometabolic Disorder?J Inherit Metab Dis160497-5001993
Hoffmann GFDie Mevalonazidurie - eine Stoffwechselerkrankung der Cholesterin- und IsoprenoidbiosyntheseThieme Verlag Stuttgart New York001994
Hyland Ket al.Disorders of neurotransmitter metabolismPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London0079-981996
Gibson KMCraigen W, Herman GE, Jakobs CD-2-Hydroxyglutaric Aciduria in a Newborn with Neurological Abnormalities: A New Neurometabolic Disorder?J Inherit Metab Dis160497-5001993
Gennip AHAbeling NGGM, Stromer AEM, Overmars H, Bakker HDThe Detection of Molybdenum Cofactor Deficiency: Clinical Symptomatology and Urinary Matabolite ProfileJ Inherit Metab Dis170142-1451994
Gennip AHAbeling NGGM, Stromer AEM, Overmars H, Bakker HDThe Detection of Molybdenum Cofactor Deficiency: Clinical Symptomatology and Urinary Matabolite ProfileJ Inherit Metab Dis170142-1451994
Gennip AHAbeling NGGM, Stromer AEM, Overmars H, Bakker HDThe Detection of Molybdenum Cofactor Deficiency: Clinical Symptomatology and Urinary Matabolite ProfileJ Inherit Metab Dis170142-1451994
Saudubray JMSpecola N, Middleton B, Lombes A, Bonnefont JP, Jacobs C, Vassault A, Charpentier CHyperketotic states due to inherited defects of ketolysis4th International congress of inborn errors of metabolism001986