Molybdenum cofactor deficiency in a Malaysian child

Singapore Medical Journal

Volumn 50, Issue 10, 2009, Pages

  Ngu, Lock Hock ^a   Afroze, B ^a   Chen, B C ^a   Affandi, O ^b   Zabedah, M Y ^b  

^a HOSPITAL KUALA LUMPUR   (Malaysia)

^b INSTITUTE FOR MEDICAL RESEARCH   (Malaysia)

Author keywords

Molybdenum cofactor deficiency; S sulphocysteine; Uric acid; Urine sulphite

Indexed keywords

HYPOXANTHINE; SULFITE; URIC ACID; XANTHINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; HUMAN; INTRACTABLE EPILEPSY; LABORATORY DIAGNOSIS; MALAYSIA; MALE; MOLYBDENUM COFACTOR DEFICIENCY; NEUROIMAGING; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PROTEIN RESTRICTION; PURINE METABOLISM; RESPIRATORY TRACT DISEASE; SCHOOL CHILD; URIC ACID BLOOD LEVEL; URINALYSIS; XANTHINURIA;

ANOXIA; BRAIN DISEASES; CHILD; COENZYMES; CYSTEINE; DIAGNOSIS, DIFFERENTIAL; HUMANS; HYPOXANTHINE; ISCHEMIA; MALAYSIA; MALE; METALLOPROTEINS; PTERIDINES; SULFITES; URIC ACID; XANTHINE;

EID: 74549223154     PISSN: 00375675     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. Arnold GL, Greene CL, Stout JP, Goodman SI. Molybdenum cofactor deficiency. J Pediatr 1993; 123:595-8.
2. Arslanoglu S, Yalaz M, Gökşen D, et al. Molybdenum cofactor deficiency associated with Dandy-Walker complex. Brain Dev 2001; 23:815-8.
3. Topcu M, Coskun T, Haliloglu G, Saatci I. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. J Child Neurol 2001; 16:264-70.
4. Duran M, Beemer FA, van de Heiden C, et al. Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport? J Inherit Metab Dis 1978; 1:175-8.
5. Hobson EE, Thomas S, Crofton PM, et al. Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy. Eur J Pediatr 2005; 164:655-9.
6. Wadman SK, Cats BP, Bree PK. Sulfite oxidase deficiency and the detection of urinary sulfite. Eur J Pediatr 1983; 141:62-3.
7. Per H, Gümüş H, Ichida K, Caǧlayan O, Kumandaş S. Molybdenum cofactor deficiency: clinical features in a Turkish patient. Brain Dev 2007; 29:365-8.