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Summary
SULFITE OXIDASE DEFICIENCY
SULFOCYSTEINURIA ACIDURIA, SULFITE OXIDASE DEFICIENCY
272300
OMIM = Online Medalian Inheritance of Men
99731
12q13.2
  • amino acid mixture
  • low-protein diet
  • no specific treatment
rare (11 cases)
autosomal recessive
less severe late onset form described
symptoms
Amino acids, urine
ataxia
chorea or athetosis
dislocated lens (ectopia lentis)
early death
ectropion
encephalopathy
enophthalmus
feeding difficulties, poor feeding
hair, abnormal (thin, brittle, fine)
hypertonia, spasticity
hypotonia
mental retardation
microcephaly (<2 SD for age)
onset, neonatal
progressive neurologic defect
seizures
skin rash, eczematous or seborrhoic
spastic diplegia/quadriplegia
strokelike episodes
laboratory finding
Sulfocysteine 0.000.00increasedurine
Sulfite increasedurine
Thiosulfate 0.0055.00increasedurine
Sulfite oxidase 20.00 % of normalfibroblasts
Sulfate0.000.00 decreasedurineno data
Homocysteine decreasedplasma
Taurine0.000.00 increasedurineno data
L-Cystine0.000.00 decreasedurineno data
Xanthine0.000.00 increasedurineno data
S-Sulfocysteine0.000.00 increasedurineno data
Literature
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Martino Set al.Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapyJ Biotechnol1173243-2512005
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Dudley Jet al.Benign methylmalonic acidemia in a sibship with distal renal tubular acidosisPediatr Nephrol127564-5661998
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Coucke Pet al.The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7qGenomics40048-541997
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Schadewaldt Pet al.Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine diseaseClin Chem45101734-17401999
Andresen BSet al.Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metaAm J Hum Genet6751095-11032000
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Kelley RIQuantification of pipecolic acid in plasma and urine by isotope-dilution gas chromatography/mass spectrometryTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York014205-2481991
Derks TGet al.The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological studyEur J Hum Genet138947-9522005