Under recognition of late onset ornithine transcarbamylase deficiency

Archives of Disease in Childhood

Volumn 82, Issue 5, 2000, Pages 390-391

  Schultz, R E H ^a   Salo, M K ^a  

^a TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

Genetics; Late onset disease; Ornithine transcarbamylase deficiency; Under recognition; Urea cycle defect

Indexed keywords

ALANINE AMINOTRANSFERASE; AMINO ACID; AMMONIA; ORNITHINE CARBAMOYLTRANSFERASE;

AMINO ACID ANALYSIS; AMMONIA BLOOD LEVEL; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMA; CONFUSION; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; FEMALE; HUMAN; MALE; NAUSEA; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTLESSNESS; SLURRED SPEECH; UREA CYCLE; VOMITING;

AGE OF ONSET; ALANINE TRANSAMINASE; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; X CHROMOSOME;

EID: 0034068994     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.82.5.390     Document Type: Article

References (6)

1. 1 Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency. J Inherit Metab Dis 1998;21(suppl 1):40-58.
2. 2 Finkelstein JE, Hauser ER, Leonard CO, Brusilow SW. Late-onset ornithine transcarbamylase deficiency in male patients. J Pediatr 1990;17:897-902.
3. 3 Van Diggelen OP, Zaremba WH, Keulemans JLM, et al. Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation. Clin Genet 1996;50:310-16.
4. 4 Grompe M, Caskey T, Fenwick RG. Improved molecular diagnostics for ornithine transcarbamylase deficiency. Am J Hum Genet 1991;48:212-22.
5. 5 Segues B, Veber PS, Rabier D, et al. A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma. Hum Mutat 1996;8:373-4.
6. 6 Oppliger-Leibundgut E, Wermuth B, Colombo J-P, Liechti-Gallati S. Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphism. Hum Mutat 1996;8:333-9.