Results 191 to 200 of about 4,798 (243)

Diagnosis and management of tyrosinemia type I

The Journal of Pediatrics, 1995
Hereditary tyrosinemia type I (HTI) (MIM 276700) is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase (EC 3.7.1.2), which is the last enzyme in the tyrosine degradation pathway. The enzyme block causes accumulation of toxic metabolites in the liver and kidneys, which are the organs where tyrosine is mainly degraded.
E, Holme, S, Lindstedt
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Maternal and fetal tyrosinemia type I

Journal of Inherited Metabolic Disease, 2010
AbstractA 22 year‐old woman with tyrosinemia type I (HT1) married her first cousin who is heterozygous for the same FAH mutation for which the patient is homozygous. During her pregnancy she was treated with diet (prescribed tyrosine intake 300 mg/day), and nitisinone (60 mg/day).
N, Garcia Segarra, S, Roche, A, Imbard, J F, Benoist, M O, Grenèche, A, Davit-Spraul, H, Ogier de Baulny   +6 more
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Laboratory monitoring of patients with hereditary tyrosinemia type I

Molecular Genetics and Metabolism, 2020
The prognosis of patients with Hereditary Tyrosinemia Type 1 (HT-1) has greatly improved with early detection through newborn screening and the introduction of nitisinone (NTBC) therapy. A recent guideline calls for periodic monitoring of biochemical markers and NTBC levels to tailor treatment; however, this is currently only achieved through a ...
Matthew J, Schultz, Brian C, Netzel, Rani H, Singh, Gisele B, Pino, Dimitar K, Gavrilov, Devin, Oglesbee, Kimiyo M, Raymond, Piero, Rinaldo, Silvia, Tortorelli, Wendy E, Smith, Dietrich, Matern   +10 more
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Tyrosinemia Type I

2016
Tyrosinemia type 1 (HT-1) is a rare metabolic disorder affecting degradation pathways of the amino acid tyrosine. HT-1 presents with liver, kidney and/or bone disease and can cause acute porphyria attacks. Biochemical diagnosis is made by measuring raised plasma tyrosine and detection of succinylacetone in urine.
David Cassiman, Wouter Meersseman
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Current Strategies for the Treatment of Hereditary Tyrosinemia Type I

Pediatric Drugs, 2006
Hereditary tyrosinemia type I (HT-I) is the most common of the three known diseases caused by defects in tyrosine metabolism. This type of tyrosinemia is caused by a mutation in the gene coding for fumarylacetoacetate hydrolase; several mutations in this gene have been identified. The main clinical features of HT-I are caused by hepatic involvement and
Merja, Ashorn, Sari, Pitkänen, Matti K, Salo, Markku, Heikinheimo   +3 more
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Early Liver Transplantation Is Indicated for Tyrosinemia Type I

Journal of Pediatric Gastroenterology and Nutrition, 1991
SummaryLiver transplantation is now accepted as the treatment of choice for tyrosinemia type I (hereditary tyrosinemia). In an effort to determine whether any factors in these patients would aid in predicting optimal timing of the transplant procedure, we evaluated several clinical, biochemical, and radiographic parameters in five successive patients ...
D K, Freese, M, Tuchman, S J, Schwarzenberg, H L, Sharp, J M, Rank, J R, Bloomer, N L, Ascher, W D, Payne   +7 more
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Carnitine-Deficient Myopathy as a Presentation of Tyrosinemia Type I

Journal of Child Neurology, 2001
Carnitine deficiency secondary to renal Fanconi's tubulopathy has been described in only a few inborn errors of metabolism : cystinosis, galactosemia, and Fanconi-Bieckel syndrome. We report a 27-month-old infant who presented with a sudden change in gait owing to proximal muscle weakness.
A, Nissenkorn, S H, Korman, O, Vardi, A, Levine, Z, Katzir, A, Ballin, T, Lerman-Sagie   +6 more
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Tyrosinemia type I: A clinico-laboratory case report

The Indian Journal of Pediatrics, 2004
Progressive hepatocellular dysfunction in a neonate, resulting in elevated serum alpha-fetoprotein together with raised blood levels of tyrosine and methionine, a generalized amino aciduria and the absence of urinary delta-aminolevulinic acid and succinylacetone, suggests a diagnosis of tyrosinemia type Ib.
Deepali, Karnik, Niranjan, Thomas, C E, Eapen, A K, Jana, A, Oommen   +4 more
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A rare case report of tyrosinemia type I

South Asian Journal of Health Sciences, 2023
Tyrosinemia type I is a rare genetic disorder that occurs due to the deficiency of enzyme Fumarylacetoacetate hydrolase, resulting in elevated levels of tyrosine in the bloodstream. This case study focuses on a 4-year-old boy with a previous medical history of tyrosinemia type I, who has been admitted to the hospital multiple times due to this ...
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Tyrosinemia type I—Diagnostic issues and prenatal diagnosis

The Indian Journal of Pediatrics, 2006
A fifteen-month-old boy, born to consanguineously married couple, presented with asymptomatic hepatomegaly. Investigations revealed mildly deranged liver functions, necroinflammatory changes and cirrhosis on liver biopsy, a markedly raised alpha feto protein and tyrosine levels in plasma and a generalized aminoaciduria.
Sunita, Bijarnia, Ratna D, Puri, Jean, Ruel, George F, Gray, Linda, Jenkinson, Ishwar C, Verma   +5 more
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