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Summary
MITOCHONDRIAL ENCEPHALOMYOPATHTHY WITH ELEVANTED METHYLMALONIC ACID, SUCLA2
MITOCHONDRIAL DNA DEPLETION SYNDROME 5
612073
OMIM = Online Medalian Inheritance of Men
1933
13q14.2
rare (1:1700 Faroe Islands)
autosomal recessive
mutation in the beta subunit of the succinate-CoA ligase gene (SUCLA2)
symptoms
basal ganglia, changes
cortical or cerebral atrophy
dystonia
growth retardation, poor growth
hearing defect, deafness
hypothermia
hypotonia
lactic acidosis
muscle atrophy
onset, infancy
onset, neonatal
laboratory finding
Methylmalonic acid50.00150.00 mmol/mol creatinineurine
Methylmalonic acid increasedplasma
Succinylcarnitine (C4-DC)0.000.00 increasedurineno data
MRI, brain, abnormalities -
3-Hydroxyisovaleric acid40.00200.00 mmol/mol creatinineurine
Methylmalonylcarnitine (C4-DC) increasedurine
Lactic acid mmol/lplasma
Literature
Peter Met al.Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studiesEur J Endocrinol139196-1001998
Dinopoulos Aet al.Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adultsNeurology6471255-12572005
Bagshaw RDet al.Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B diseaseBiochim Biophys Acta00247-2532002
Swarna Met al.Amino acid disorders in mental retardation: a two-decade study from Andhra PradeshBiochem Genet42085-962004
Peter Met al.Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studiesEur J Endocrinol139196-1001998