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Summary
LETHAL INFANTILE MITOCHONDRIAL DISEASE (LIMM)
551000
OMIM = Online Medalian Inheritance of Men
254857
rare
mitochondrial
Disorder of nuclear OXPHOS genes Complex I, III, IV Complex IV and cytochrome aa3 Complex IV and cytochrome aa3 and cytochrome b
symptoms
Amino acids, urine
cardiomyopathy
early death
failure to thrive
Fanconi syndrome
hypotonia
lactic acidosis
liver involvement or dysfunction
muscle weakness
myopathy
onset, neonatal
ophthalmoplegia
laboratory finding
L-Lactic acid3.006.000.901.80mmol/lblood
MRI, brain, abnormalities -
Literature
Vreken Pet al.cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionaseBiochim Biophys Acta14470251-2571999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Moolenaar SH,et al.Ureidopropionase deficiency: a novel inborn error of metabolism discovered with NMR spectroscopyJ Inher Met Dis Suppl2201999
Sass JO,et al.3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenaseJ Inherit Metab Dis353437-4422012