A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): A case report

Orphanet Journal of Rare Diseases

Volumn 4, Issue 1, 2009, Pages

  Cassiman, David ^a   Zeevaert, Renate ^a   Holme, Elisabeth ^b,c   Jaeken, Jaak ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b Salhgrenska Hospital   (Sweden)

^c UNIVERSITY OF OSLO   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXYPHENYLPYRUVATE DIOXYGENASE; ALKALINE PHOSPHATASE; ALPHA FETOPROTEIN; AMINOLEVULINIC ACID; AMINOTRANSFERASE; AMMONIA; BILIRUBIN; FUMARYLACETOACETASE; METHIONINE; SUCCINYLACETONE; TYROSINE; HEPTANOIC ACID DERIVATIVE; HYDROLASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; AMINOTRANSFERASE BLOOD LEVEL; AMMONIA BLOOD LEVEL; ARTICLE; BELGIUM; BILIRUBIN BLOOD LEVEL; CASE REPORT; CHILD; CHILD DEVELOPMENT; COMPUTER ASSISTED TOMOGRAPHY; DIET RESTRICTION; DIET THERAPY; ECHOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPISTAXIS; GENE MUTATION; HEMATEMESIS; HEMATOCHEZIA; HEMATOMA; HEPATOMEGALY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; PETECHIA; PHYSICAL DEVELOPMENT; PHYSICAL EXAMINATION; PROTEIN EXPRESSION; PROTHROMBIN TIME; PSYCHOMOTOR DEVELOPMENT; THROMBOPLASTIN TIME; TYROSINEMIA; BLOOD; DNA SEQUENCE; ENZYMOLOGY; FIBROBLAST; GENETICS; LIVER; METABOLISM; MUTATION; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; URINE;

CHILD; FIBROBLASTS; HEPTANOATES; HUMANS; HYDROLASES; LIVER; MALE; MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA; TYROSINE; TYROSINEMIAS;

EID: 74549191332     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-4-28     Document Type: Article

References (8)

1. The genetic tyrosinemias. CR Scott, Am J Med Genet C Semin Med Genet 2006 142 121 6
2. Identification of 4,6-dioxoheptanoic acid (succinylacetone), 3,5-dioxooctanedioic acid (succinylacetoacetate) and 4-Oxo-6-hydroxyheptanoic acid in the urine from patients with hereditary tyrosinemia. B Lindblad G Steen, Biomed Mass Spectrom 1982 9 419 24 10.1002/bms.1200091003 7171740
3. Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. H Rootwelt J Chou WA Gahl R Berger T Cokun E Brodtkorb EA Kvittingen, Hum Genet 1994 93 6 615 9 10.1007/BF00201558 8005583
4. Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts. R Berger H Van Faassen JW Taanman H De Vries E Agsteribbe, Pediatr Res 1987 22 4 394 8 10.1203/00006450-198710000-00005 3317254
5. Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. EA Kvittingen H Rootwelt P Brandtzaeg A Bergan R Berger, J Clin Invest 1993 91 1816 21 10.1172/JCI116393 8473520
6. Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1. G Kelsey S Ruppert F Beermann C Grund RM Tanguay G Schutz, Genes Dev 1993 7 2285 97 10.1101/gad.7.12a.2285 8253377
7. Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia. JF Weigel N Janzen RW Pfaffle J Thiery W Kiess U Ceglarek, J Inherit Metab Dis 2007 30 610 10.1007/s10545-007-0608-9 17694358
8. Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. A Schulze D Frommhold GF Hoffmann E Mayatepek, Clin Chem 2001 47 1424 9 11468232