Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon

Clinical Genetics

Volumn 59, Issue 2, 2001, Pages 111-114

  Ploechl, E ^a   Ploechl, W ^b   Stoeckler Ipsiroglu, S ^b   Pokornydan, H ^b   Wermuth, B ^c  

^a St Johanns Spital   (Austria)

^b UNIVERSITY OF VIENNA   (Austria)

^c UNIVERSITY OF BERN   (Switzerland)

Author keywords

Genotype; Late onset OTC deficiency; Mutation in the same codon; Phenotype comparison; Substitutions of different bases

Indexed keywords

ADENINE; ARGININE; CYSTEINE; CYTOSINE; GUANINE; HISTIDINE; ORNITHINE CARBAMOYLTRANSFERASE; THYMINE;

ADOLESCENT; ADULT; AGE; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; BRAIN EDEMA; CAUSE OF DEATH; CHILD; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DEATH; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ACTIVITY; ENZYME STRUCTURE; EXON; FAMILY; FEMALE; GENE MUTATION; GILBERT DISEASE; HEMIZYGOTE; HUMAN; HYPERAMMONEMIA; IN VITRO STUDY; LIVER BIOPSY; LIVER TRANSPLANTATION; MALE; MOLECULAR GENETICS; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PRIORITY JOURNAL; PUBLICATION; RECIPIENT; SYMPTOM;

CODON; EXONS; FEMALE; HUMANS; LIVER; MALE; ORNITHINE CARBAMOYLTRANSFERASE; PEDIGREE; POINT MUTATION; UREA;

EID: 0035106315     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590208.x     Document Type: Article

References (11)

1. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency
2. A 3-base pair in-frame deletion in exon 8 (del Glu 272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma
3. Ornithine transcarbamylase deficiency: New sites with increased probability of mutation
4. Death after transplantation of liver from a donor with unrecognized ornithine transcarbamylase deficiency
5. Seven new mutations in the human ornithine transcarbamylase gene
6. Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg 40 His, ranging from a child with an unfavourable prognosis to an asymtomatic older adult
7. The R40H mutation in a late onset type of human ornithine transcarbamnylase deficiency in male patients
8. Late onset ornithine transcarbamylase deficiency: Function of three purified recombinant mutant enzymes
9. 1.85-A resolution crystal structure of human ornithine transcarbamylase complexed with N-phosphonacetyl-1-ornithine
10. Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms
11. Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia