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Summary
KEARNS-SAYRE SYNDROME
OPHTHALMOPLEGIA, PIGMENTARY DEGENARATION OF RETINA AND CARDIOMYOPATHY KEARNS-SAYRE DISEASE
530000
OMIM = Online Medalian Inheritance of Men
480
mtDNA
autosomal dominant
autosomal recessive
mitochondrial DNA deletions * special lab: detection of complex I and IV deficiency in muscle biopsy
symptoms
ataxia
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, hypertrophic
coma
growth retardation
hearing defect, deafness
hypoglycemia
lactic acidosis
mental retardation
metabolic acidosis
muscle weakness
myopathy, ragged red fibers
onset, infant
ophthalmoplegia
optic atrophy
ptosis (drooping eyelid)
retinal or macular degeneration
retinitis pigmentosa
tremor or twitching
vomiting
laboratory finding
Lactate2.006.000.901.80mmol/lblood
Lactate/Pyruvate ratio20.0040.0011.0018.00no unitblood
pH7.207.307.357.45no unitblood
Glucose2.003.503.305.50mmol/lserum
Protein, total, spinal fluid 10.0030.00increasedspinal fluid
CT, brain, abnormalities -
EMG abnormalities -
Literature
Vilanova LCSantos LMKrabbe disease (globoid cell leukodystrophy): a case reportJ Pediatr (Rio J)742153-1561998
Happle RHypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hunermann-Happle syndromeAm J Med Genet12232792003
Kruse Ket al.Hyperphosphatasia with mental retardationJ Pediatr1120436-4391988
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Whittock NVet al.Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctataPrenat Diagn239701-7042003
Haberle Jet al.Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)Mol Genet Metab803302-3062003
Korn-Lubetzki INevo YInfantile Krabbe diseaseArch Neurol60111643-16442003