SELECTED JOURNAL ARTICLES ON TYROSINEMIA
(always updating web addresses-may need to cut/paste URL another page)
Animal Models Reveal Pathophysiologies of Tyrosinemias
http://www.nutrition.org/cgi/content/full/133/6/2063S
Abstract: The activity of the enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) is regulated by transcription factors. Mutations in the HPD locus are related to two known distinct diseases: hereditary tyrosinemia type 3 and hawkinsinuria. HPD-deficient mice are a good model with which to examine the biological effects of 4-hydroxyphenylpyruvic acid, which is a keto acid that causes no apparent visceral damage. In contrast, hereditary tyrosinemia type 1, a genetic disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH), induces severe visceral injuries. Mice with FAH deficiency are lethal after birth; thus, efforts to elucidate the mechanisms of the disease process have been impeded. The use of Fah-/- Hpd-/- double-mutant mice has enabled studies on tyrosinemias, and essential features of visceral injury have been reveale.
NTBC
INVITED EDITORIAL: Are We Ready to Try to Cure Alkaptonuria?
Bert N. La Du, Jr.
http://www.journals.uchicago.edu/AJHG/journal/issues/v62n4/980097/980097.text.html
LETTERS TO THE EDITOR: NTBC and Alkaptonuria
Yair Anikster, William L. Nyhan,and William A. Gahl
Am. J. Hum. Genet. 63:920-921, 1998
http://www.journals.uchicago.edu/AJHG/journal/issues/v63n3/980340/980340.html
(Lots of additional links)
TYROSINEMIA TYPE I
Tyrosinemia: the Quebec experience
Khazal Paradis, MD Division of Pediatric Gastroenterology-Nutrition, Department of Pediatrics, Hopital Sainte-Justine, University of Montreal, Montreal, Que
Clin Invest Med 1996; 19 (5): 311-6.
http://www.cma.ca/cim/vol-19/0311.htm
A Single Mutation of the Fumarylacetoacetate Hydrolase Gene in French Canadians with Hereditary Tyrosinemia Type I
Markus Grompe, Maryse St.-Louis, Sylvie I. Demers, Muhsen Al-Dhalimy, Barbara Leclerc, Robert M. Tanguay
The New England Journal of Medicine -- August 11, 1994 -- Vol. 331, No. 6
http://content.nejm.org/cgi/content/short/331/6/353
Indications and outcome of liver transplantation in tyrosinaemia type 1
Mohan N, McKiernan P, Preece MA, Green A, Buckels J, Mayer AD, Kelly DA
Liver Unit, Birmingham Children's Hospital NHS Trust, Steelhouse Lane, Birmingham, B4 6NH, UK
Eur J Pediatr 1999 Dec;158 Suppl 2:S49-54
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10603099&dopt=Abstract
Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia.
Wilson CJ, Van Wyk KG, Leonard JV, Clayton PT.
Metabolic Unit, Great Ormond Street Hospital for Children, London, UK. callumjwilson@yahoo.com
Tyrosinaemia types I and II are caused by enzyme deficiencies in the tyrosine catabolism pathway. Successful treatment is possible with the novel enzyme inhibitor NTBC in tyrosinaemia type I and with dietary tyrosine and phenylalanine restriction in both conditions. This is achieved with a low natural protein intake and a supplementary amino acid formula that is phenylalanine- and tyrosine-free. Patients on this regimen had been noted, periodically, to have very low plasma phenylalanine concentrations (<20 micromol/L). The tyrosine and phenylalanine profiles in six patients were measured. Five of the six patients had very low concentrations of phenylalanine during the later half of the day. The response to phenylalanine supplementation was assessed and supplementing the diet with phenylalanine 30-40 mg/kg per day resulted in normal concentrations throughout the day. Possible complications of hypophenylalaninaemia and potential preventive treatment strategies are discussed. Further studies are needed to investigate the longer-term clinical and biochemical consequences of phenylalanine supplementation.
PMID: 11117429 [PubMed - indexed for MEDLINE]
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