Visit Metagene.de!
Summary
TYROSINEMIA I
FUMARYLACETOACETATE HYDROLASE DEFICIENCY HEPATORENAL TYROSINEMIA TYROSINOSIS, ACUTA AND CHRONIC FUMARYLACETOACETASE
276700
OMIM = Online Medalian Inheritance of Men
882
15q25.1

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • liver transplantation
  • NTBC (2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclo-hexanedione)
  • phenylalanine-restricted diet
  • tyrosine-restricted diet
  • vitamin D
rare (1:2.000.000, >100 cases)
autosomal recessive
2 types:
- acute form (1-6 mo)
- chronic form
Hepatocellular carcinoma despite NTBC treatment (van Spronsen 2005)
symptoms
Amino acids, plasma
anemia
ascites
bleeding tendencies, hemorrhages
cardiomyopathy
cardiomyopathy, hypertrophic
cirrhosis or fibrosis of liver
diarrhea
edema
failure to thrive
Fanconi syndrome
fever
growth retardation
hepatomegaly (large liver)
hypoglycemia
irritability
jaundice
lethargy, drowsiness, malaise or sleep disorder
liver carcinoma
liver failure
liver involvement or dysfunction
melena
nephrocalcinosis
neuropathy
onset, childhood
onset, infancy
onset, neonatal
Organic acids, urine
rancid, fishy or cabbage odor
renal enlargement (large kidneys)
renal failure, acute/chronic
rickets
thrombopenia, thrombocytopenia
tubulopathy
unusual odor / odour
vomiting
laboratory finding
Succinylacetone20.00700.000.002.00mmol/mol creatinineurine
4-Hydroxyphenyllactic acid100.005000.00 mmol/mol creatinineurineno data
4-Hydroxyphenylpyruvic acid140.002000.000.002.00mmol/mol creatinineurine
p-Hydroxyphenylacetic acid140.00500.006.0028.00mmol/mol creatinineurine
N-Acetyltyrosine30.00200.000.002.00mmol/mol creatinineurine
L-Tyrosine150.00450.0038.00147.00+Ôé¼mol/lplasmanewborn
alpha-Fetoprotein increasedplasma
D-Glucose 3.305.50decreasedblood
L-Methionine 9.0051.00increasedplasma
Phosphorus, inorganic 1.602.60decreasedserum
Coagulopathy/Coagulation factors abnormalplasma
Thrombocytes, Platelets 150.00400.00decreasedblood
Uracil0.000.00 increasedurineno data
5-Aminolevulinic acid0.000.000.0019.00increasedurinenewborn
Ferric chloride reaction greenurine
5-Oxoproline0.000.00 increasedurineno data
4-Hydroxycyclohexylacetic acid0.000.00 increasedurineno data
Betaine0.000.00 increasedurineno data
Literature
Olah Jet al.Triosephosphate isomerase deficiency: a neurodegenerative misfolding diseaseBiochem Soc Trans30230-382002
Rodes Met al.A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuriaJ Inherit Metab Dis10073-811987
Cassidy MJet al.Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipientNephrol Dial Transplant193736-7382004
Poggi-Travert Fet al.Clinical approach to inherited peroxisomal disordersJ Inher Met Dis Suppl1801-181995
Schiller Aet al.Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiencyNeurology6381524-15262004
Luka Zet al.Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolismHum Genet110068-742002
Berson ELet al.A two year trial of low-protein, low-arginine diet or vitamine B6 for patients with gyrate atrophyBirth Defects Orig Artic Ser180209-2181982
Poggi-Travert Fet al.Clinical approach to inherited peroxisomal disordersJ Inher Met Dis Suppl1801-181995
de Rijk-Van Andel JFet al.L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiencyNeurology55121926-19282000
Saunier Pet al.Cytochrome c oxidase (COX) deficiency presenting as recurrent neonatal myoglobinuriaNeuromuscul Disord54285-2891995
Lewis Bet al.Isolated glycerol kinase deficiency in a neonateJ Child Neurol9070-731994
Swaans RJet al.Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonismAnn Hum Genet64025-312000
Martin JRMellor CS, Fraser FCFamilial hypertryptophanemia in two siblingsClin Genet470180-1831995
Higgins JJet al.Pyridoxine-responsive hyper-beta-alaninemia associated with Cohens syndromeNeurology4401728-17321994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
van der Meer SBet al.Clinical outcome and long-term management of 17 patients with propionic acidemiaEur J Pediatr1550205-2101996
Poggi-Travert Fet al.Clinical approach to inherited peroxisomal disordersJ Inher Met Dis Suppl1801-181995
Steinberg SJFensom AH, Dalton NR, Toseland PA, Kennedy CR, Mowat APMeasurement of Plasma Very Long-Chain Fatty Acids as a Preliminary Screening Procedure for the Diagnosis of Peroxysomal DisordersJ Inher Metab Dis170323-3261994
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Heymans HSWanders RJA, Schutgens RBHPeroxisomal disordersJ Inherit Metab Dis00421-4331995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hejazi RA,McCallum RWReview article: cyclic vomiting syndrome in adults--rediscovering and redefining an old entityAliment Pharmacol Ther343263-2732011
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Lagman-Bartolome AM,Lay CPediatric migraine variants: a review of epidemiology, diagnosis, treatment, and outcomeCurr Neurol Neurosci Rep156342015
Terasaka Tet al.Structure-based design and synthesis of non-nucleoside, potent, and orally bioavailable adenosine deaminase inhibitorsJ Med Chem47112728-27312004
Zhang Y,et al.Long-term treatment by ACE inhibitors and angiotensin receptor blockers in children with Alport syndromePediatr Nephrol31167-722016
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Naylor EWet al.Guanosine triphosphate cyclohydrolase I deficiency: Early diagnosis by routine urine pteridine screeningPediatrics790374-1987