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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
mitochondrial inheritance
mitochondrial DNA point mutations that affect the ND subunits of complex I [Baracca et al. 2005]
symptoms
ataxia
blindness, visual loss, visual impairment
cardiac arrhythmia, dysrhythmia
dystonia
headache (severe, recurrent or occipital, migraine)
myopathy
neuropathy
onset, adolescent
onset, adulthood
onset, childhood
optic atrophy
peripheral neuropathy
tremor or twitching
vision loss
laboratory finding
ECG abnormalities -
Literature
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Rafique MEmerging trends in management of propionic acidemiaArq Bras Endocrinol Metabol583237-2422014
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
Karimzadeh P,et al.Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorderIran J Child Neurol8158-612014
Baruteau J,et al.Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.Mitochondrion170150-1562014
Doerre K,et al.A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approachJ Inherit Metab Dis385931-9402015
Sosicka P,et al.An insight into the orphan nucleotide sugar transporter SLC35A4Biochim Biophys Acta18645825-8382017
Laemmle A,et al.Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathyEur J Pediatr1737971-9742014
Foulquier F,et al.TMEM165 deficiency causes a congenital disorder of glycosylationAm J Hum Genet91115-262012
Zeevaert R,et al.Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165JIMD Rep80145-1522013
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