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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 5
ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA SUCLA2 Deficiency
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
abnormal movement
Amino acids, urine
basal ganglia, changes, lesions, calcifications (MRI, CT)
cerebral atrophy
chorea or athetosis
contractures, joints
defect of walking, running, rising or climbing
developmental delay
dystonia
encephalopathy
failure to thrive
feeding difficulties, poor feeding
growth retardation, poor growth
hearing defect, deafness
hyporeflexia
hypotonia
irritability
lactic acidosis
mental retardation
motor retardation
muscle atrophy
muscle weakness
onset, infancy
onset, neonatal
ophthalmoplegia
peripheral neuropathy
psychomotor retardation
ptosis (drooping eyelid)
respiratory insufficiency
seizures
skoliosis, kyphoskoliosis
strabismus
tubulopathy
laboratory finding
Methylmalonic acid plasma
3-Hydroxyisovaleric acid50.00500.00 mmol/mol creatinineurine
Methylcitric acid5.0050.00 mmol/mol Creaurine
MRI, brain, abnormalities - urine
Methylmalonic acid20.0050.00 mmol/mol creatinineurine
3-Methylglutaconic acid30.00300.00 mmol/mol creatinineurine
Creatine kinase0.000.00 U/lplasma
Lactic acid mmol/lcerebrospinal fluid
Lactic acid2.506.00 mmol/lplasma
Literature
Okumiya Tet al.Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B diseaseMol Genet Metab78151-582003
Mok ACao H, Hegele RA.Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfataseGenomics8111-52003
Tomatsu Set al.Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVAPediatr Res554592-5972004
Stirnemann J,et al.A Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsInt J Mol Sci1822017
Stirnemann J,et al.A Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsInt J Mol Sci1822017
Tomatsu Set al.Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patientsHum Mutat242187-1882004
Bagshaw RDet al.Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B diseaseBiochim Biophys Acta00247-2532002
Beesley CEet al.Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase geneJ Med Genet403192-1942003
Paschke Eet al.Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type BHum Genet1092159-1662001
Morgan KARehman MA, Schwartz REMorquios syndrome and its anaesthetic considerationsPaediatr Anaesth127641-6442002