Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity

Journal of Inherited Metabolic Disease

Volumn 21, Issue 1, 1998, Pages 71-72

  Staudt, M ^a,c   Wermuth, B ^b   Freisinger, P ^a   Hassler A ^a   Pontz, B F ^a  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY OF BERN   (Switzerland)

^c Children's Hospital   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; INFANT; LIVER; NEWBORN; POINT MUTATION; PROTEIN RESTRICTION;

CHILD, PRESCHOOL; FEMALE; HISTIDINE; HUMANS; LIVER; METABOLISM, INBORN ERRORS; ORNITHINE CARBAMOYLTRANSFERASE; POINT MUTATION; PROLINE;

EID: 0031985733     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005315531630     Document Type: Article

References (2)

1. Hauser ER, Finkelstein JE, Valle D, Brusilow SW (1990) Allopurinol-induced orotidinuria : a test for mutations at the ornithine carbamoyltransferase locus in women. N Engl J Med 322: 1641-1645.
2. Vella S, Steiner S, Schlumbom V, et al (1997) Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. J Inher Metab Dis 20: 517-524.