Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese

Journal of the Formosan Medical Association

Volumn 102, Issue 12, 2003, Pages 851-856

  Huang, Yuan Te ^a   Chien, Yin Hsiu ^a   Yeh, Hui Ying ^a   Lin, Shio Jean ^b   Lu, Frank Li ^a   Chou, Shi Ping ^a   Lin, Jing Meei ^a   Chiang, Shu Chuan ^a   Hwu, Wuh Liang ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Age of onset; Mutation analysis; Ornithine carbamoyltransferase deficiency disease; Taiwan

Indexed keywords

4 PHENYLBUTYRIC ACID; ADENINE; AMMONIA; BENZOIC ACID; BUCEPHAN; CARNITINE; CITRULLINE; CYTOSINE; GUANINE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; PHENYLACETIC ACID; TYROSINE; UCEPHAN;

ACIDURIA; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DIET SUPPLEMENTATION; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; EXCHANGE BLOOD TRANSFUSION; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEMODIALYSIS; HUMAN; HYPERAMMONEMIA; INFANT; INHERITANCE; INTELLIGENCE QUOTIENT; MALE; MEDICAL ASSESSMENT; ONSET AGE; OUTCOMES RESEARCH; PERITONEAL DIALYSIS; POPULATION RESEARCH; PROTEIN RESTRICTION; SCORING SYSTEM; SURVIVAL; SYMPTOM; TAIWAN; TIME; X CHROMOSOME LINKAGE;

FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; PHENOTYPE; TAIWAN;

EID: 2342573701     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Brusilow SW, Horwich AL: Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, et al, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001: 1909-63.
2. Nagata N, Matsuda I, Oyanagi K: Estimates frequency of urea cycle enzymopathies in Japan. Am J Med Genet 1991;32: 228-9.
3. Maestri NE, Clissold D, Brusilow SW: Neonatal onset ornithine transcarbamylase deficiency: a retrospectived analysis. J Pediatr 199;134:268-72.
4. Tuchman M: The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency. J Lab Clin Med 1992; 120:836-50.
5. Arn PH, Hauser ER, Thomas GH, et al: Hyperammonemia in women with a mutation at the ornithine carbamoyltransferese locus. A cause of postpartum coma. N Engl J Med 1990;322: 1652-5.
6. Schimanski U, Krieger D, Horn M, et al: A novel two-nucletide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy. Hepatology 1996;24: 1413-5.
7. Hauser ER, Finkelstein JE, Valle D, et al: Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women. N Engl J Med 1990;322: 1641-5.
8. Horwich AL, Fenton WA, Wiliams KR, et al: Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science 1984;224:1068-74.
9. Tuchman M, Jaleel N, Morizono H, et al: Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat 2002;19:93-107.
10. Climent C, Rubio V: Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency. Hum Mutat 2002;19:185-6.
11. Msall M, Batshaw ML, Suss R, et al: Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. N Engl J Med 1984;310:1500-5.
12. Thoene JG: Treatment of urea cycle disorders. J Pediatr 1999; 134:255-6.
13. Nicolaides P, Liebsch D, Dale N, et al: Neurological outcome of patients with ornithine carbamoyltransferase deficiency. Arch Dis Child 2002;86:54-6.
14. Hou JW, Wang TR: Amino acid and DNA analyses in a family with ornithine transcarbamylase deficiency. J Formos Med Assoc 1996;95:144-7.
15. Yeh SJ, Hwu WL, Tsai WS, et al: Ornithine transcarbamylase deficiency. J Formos Med Assoc 1997;96:43-5.
16. Tang NL, Hui J, Law LK, et al: Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong. Clin Chim Acta 2001;313:195-201.
17. Hwu WL, Chou SP, Wang TR: Measurement of urinary orotic acid by gas chromatography-mass spectrometry. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1992;33:176-80.
18. Burlina AB, Ferrari V, Dionisi-Vici C, et al: Allopurinol challenge test in children. J Inherit Metab Dis 1992;15:707-12.
19. Tuchman M, Morizono H, Rajagopal BS, et al: The biochemical and molecular spectrum of ornithine transcarbamylase deficiency. J Inherit Metab Dis 1998;21(Suppl 1):40-58.
20. Chen JH: Chinese version of the Wechsler Intelligence Scale for Children-Revised (WISC-R). Taipei: Chinese Behavior Science Corporation; 1979. [In Chinese]
21. Tuchman M, Morizono H, Rajagopal BS, et al: Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency. J Inherit Metab Dis 1997;20:525-7.
22. Bogdanovic MD, Kidd D, Briddon A, et al: Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus. J Neurol Neurosurg Psychiatry 2000;69:813-5.
23. Sebesta I, Fairbanks LD, Davies PM, et al: The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk. Clin Chim Acta 1994;224:45-54.
24. Oexle K, Bonafe L, Steinmann B: Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency. Mol Genet Metab 2002;76:71-5.
25. Wong KY, Wong SN, Lam SY, et al: Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration. Pediatr Nephrol 1998;12:589-91.
26. Shimadzu M, Matsumoto H, Matsuura T, et al: Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency. Hum Mutat 1998;(Suppl 1):S5-7.
27. Giorgi M, Morrone A, Donati MA, et al: Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations. Hum Mutat 2000;15:380-1.