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Summary
LEBERS HEREDITARY OPTIC NEUROPATHY, LHON
LEBER OPTIC ATROPHY OPTIC ATROPHY, LEBER TYPE
535000
OMIM = Online Medalian Inheritance of Men
104
mtDNA
rare maternal inheritance mitochondrial DNA point mutations that affect the ND subunits of complex I [Baracca et al. 2005]
symptoms
blindness, visual loss, visual impairment
cardiac arrhythmia, dysrhythmia
headache (severe, recurrent or occipital, migraine)
onset, adolescent
onset, adult
onset, child
optic atrophy
laboratory finding
ECG abnormalities -
Literature
Kjaergaard Set al.Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1AActa Paediatr870884-8881998
Casteels-Van Daele Met al.Reye syndrome revisited: a descriptive term covering a group of heterogeneous disordersEur J Pediatr1590641-6482000
Koch Met al.Crystal structure of protoporphyrinogen IX oxidase: a key enzyme in haem and chlorophyll biosynthesisEMBO J2381720-17282004
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994