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Summary
MOLYBDENIUM CO-FACTOR DEFICIENCY
SULFITE OXIDASE DEFICIENCY
252150
OMIM = Online Medalian Inheritance of Men
833
6p21.2
  • no specific treatment
rare
autosomal recessive
mutation in the MOCS1 gene
symptoms
Amino acids, plasma
Amino acids, urine
bleeding tendencies, hemorrhages
cardiomyopathy, hypertrophic
cerebral atrophy
dislocated lens (ectopia lentis)
dysmorphism
early death
encephalopathy
enophthalmus
feeding difficulties, poor feeding
growth retardation
hypotonia
lactic acidosis
mental retardation
microcephaly (<2 SD for age)
nystagmus
onset, infancy
onset, neonatal
opisthotonus
seizures
spastic diplegia/quadriplegia
vomiting
laboratory finding
Uric acid0.000.000.605.50decreasedserum
S-Sulfocysteine171.00338.00 -Ámol/lplasma
S-Sulfocysteine 0.0018.00increasedurine
Taurine466.001261.008.00226.00mmol/mol creatinineurinenewborn
L-Cystine1.007.1012.0048.00mmol/mol creatinineurine
Sulfite oxidase decreased activityfibroblasts
Xanthine dehydrogenase decreased activityfibroblasts
Uric acid 2.20820.001026.00mmol/g creatinineurine
Sulfate0.000.00 decreasedurineno data
MRI, brain, abnormalities -
EEG abnormalities -
Xanthine0.000.00 increasedurineno data
Hypoxanthine0.000.00 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
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Dudley Jet al.Benign methylmalonic acidemia in a sibship with distal renal tubular acidosisPediatr Nephrol127564-5661998
Ahmad Aet al.Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartateM J Med Genet870331-3381999
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Santarelli Let al.Atrophic gastritis as a cause of hyperhomocysteinaemiaAliment Pharmacol Ther191107-1112004
Ergun-Longmire Bet al.Two Novel Mutations Found in a Patient with 17 {alpha}-Hydroxylase Enzyme DeficiencyJ Clin Endocrinol Metab002006
Coucke Pet al.The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7qGenomics40048-541997
Bamba TIhara TMethionine malabsorption syndromeRyoikibetsu Shokogun Shirizu192576-5771998
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Kabakkaya Yet al.Pendreds syndromeAnn Otol Rhinol Laryngol1020285-2881993
Mandelstam SAFisher RMenkes disease: a rare cause of bilateral inguinal herniasAustralas Radiol492192-1952005
Arlt Wet al.Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical studyLancet36302128-21352004