Isolated sulphite oxidase deficiency: Clinical and biochemical features in an Italian patient

Journal of Inherited Metabolic Disease

Volumn 27, Issue 1, 2004, Pages 101-102

  Schiaffino, M Cristina ^a   Fantasia, A R ^a   Minniti, G ^a   Caruso, U ^a   Carnevale, F ^b   Cerone, R ^a  

^a G GASLINI INSTITUTE   (Italy)

^b POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; AMINO ACID; CREATINE KINASE; CYSTEINE; CYSTEINE DERIVATIVE; LACTIC ACID; PURINE; PYRIMIDINE; SULFATE; SULFITE OXIDASE; TAURINE; URIC ACID;

APNEA; ARTICLE; BIOCHEMISTRY; BRAIN CYST; BRAIN HYPOXIA; BRAIN RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; CLONIC SEIZURE; CYANOSIS; DEATH; DISEASE COURSE; DISEASE SEVERITY; ENCEPHALOMALACIA; ENZYME DEFICIENCY; FACE DYSMORPHIA; FACE MALFORMATION; GRAND MAL SEIZURE; HUMAN; HYPERPYREXIA; HYPOKINESIA; HYPOPLASIA; INFANT; ITALY; MALE; MICROPHTHALMIA; MOTOR DYSFUNCTION; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NEUROPATHOLOGY; NEWBORN; NEWBORN DISEASE; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PREMATURITY; PYRAMIDAL SIGN; RESPIRATORY DISTRESS; URINALYSIS;

APNEA; CYANOSIS; ENCEPHALOMALACIA; EPILEPSY, TONIC-CLONIC; FACE; FATAL OUTCOME; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; METABOLISM, INBORN ERRORS; OXIDOREDUCTASES ACTING ON SULFUR GROUP DONORS; URINE;

EID: 1842486041     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000016674.61073.e4     Document Type: Article

References (5)

1. Barbot C, Martins E, Vilarinho L, Dorche C, Cardoso ML (1995) A mild form of infantile sulphite oxidase deficiency. Neuropediatrics 26: 322-324.
2. Irreverre F, Mudd SH, Heizer WD, Laster L (1967) Sulfite oxidase deficiency: studies of a patient with mental retardation, dislocated ocular lenses, and abnormal urinary excretion of S-sulfo-L-cysteine, sulfite and thiosulfate. Biochem Med 1: 187-217.
3. Johnson JL, Wadman SK (1995) Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2271-2283.
4. Touati G, Rusthoven E, Depondt E, et al (2000) Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement. J Inherit Metab Dis 23: 45-53.
5. van der Klei-van Moorsel JM, Smit LM, Brockstedt M, Jakobs C, Dorche C, Duran M (1991) Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion. Eur J Pediatr 150: 196-197.