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Summary
NARP SYNDROME
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
551500
OMIM = Online Medalian Inheritance of Men
644
unkwown
rare
mitochondrial inheritance
mutations in the mitochondrial ATP synthase 6 gene
symptoms
apnea
ataxia
blindness, visual loss, visual impairment
dementia
developmental delay
early death
encephalopathy
epilepsy
leukoencephalopathy
mental retardation
muscle weakness
nystagmus
onset, adolescent
onset, adulthood
peripheral neuropathy
psychosis
retinitis pigmentosa
retinopathy
seizures
laboratory finding
Citrulline 7.0050.00normal/decreasedplasma
Literature
Muhlhausen C,et al.TANGO2 deficiency, a novel neurometabolic disorder with recurrent encephalo-cardio-myopathic crisesSSIEM 2016 Annual Symposium, Rome, Italy, September 201600O-0372016
Kivuva EC,et al.De Barsy syndrome: a review of the phenotypeClin Dysmorphol17299-1072008
Skidmore DL,et al.Further expansion of the phenotypic spectrum asso/ciated with mutations in ALDH18A1, encoding +รถ-pyrroline-5-carboxylate synthase (P5CS)Am J Med Genet A15581848-18562011
Kiykim A,et al.Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropeniaClin Immunol16501-32016
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
Lalani SR,et al.Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsAm J Hum Genet982347-3572016
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
Kremer LS,et al.Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyAm J Hum Genet982358-3622016
Fitzsimons PE,et al.MEGCANN: A new disorder in the Rish Traveller populationSSIEM 2016 Annaual Symposium, Rome, Italy, September 2016002016
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 JM,Specola 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