Results 61 to 70 of about 6,468 (222)

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

International Journal of Neonatal Screening, 2020
Tyrosinemia type I (TT1) is an inborn error of tyrosine metabolism with features including liver dysfunction, cirrhosis, and hepatocellular carcinoma; renal dysfunction that may lead to failure to thrive and bone disease; and porphyric crises. Once fatal
Jessica R. C. Priestley, Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan-Walters, Ligia Smith, Can Ficicioglu, Rebecca D. Ganetzky, Rebecca C. Ahrens-Nicklas   +8 more
doaj   +1 more source

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Clinical and para clinical findings in the children with tyrosinemia referring for liver transplantation

International Journal of Preventive Medicine, 2013
Background: Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase enzyme.
Seyed Mohsen Dehghani, Mahmood Haghighat, Mohammad Hadi Imanieh, Hossein Karamnejad, Abdorrasoul Malekpour   +4 more
doaj  

Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia

Revista Finlay, 2023
Foundation: hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. Due to its metabolic complexity, its confirmation requires a set of highly expensive
Iovana Fuentes Cortés, Beliany Pacheco Suárez, Dulce María Charón Savón   +2 more
doaj  

Choosing a pediatric recipient for orthotopic liver transplantation [PDF]

, 1987
Between March 3, 1981, and June 1, 1984, 216 children were evaluated for orthotopic liver transplantation. Of the 216 patients, 117 (55%) had recelved at least one liver transplant by June 1, 1985. Fifty-five (25%) died before transplantation.
Andrew H. Urbach, Atkin, Basil J. Zitelli, Borel, Byar, Byar, Byers W. Shaw, Cox, Cutler, Daniel J. Schaid, Fallon, Gartner, Gartner, Gartner, Gordon, Houssin, Howard Rockette, J. Carlton Gartner, J. Jeffrey Malatack, John Fischer, Lachin, Lee, Mantel, National Institutes of Health Consensus Development Conference statement, Perrin, Sabbeth, Shaw, Shunzaburo Iwatsuki, Starzl, Starzl, Thomas E. Starzl, Zitelli   +31 more
core   +1 more source

Unraveling Fanconi Syndrome: Severe Proximal Tubulopathy, Osteomalacia in a 27‐Year‐Old Male on TDF‐Based HIV Regimen: A Case Report

Case Reports in Nephrology, Volume 2026, Issue 1, 2026.
This case report delves into the complex presentation of Fanconi syndrome (FS) associated with tenofovir disoproxil fumarate (TDF) use in a 27‐year‐old male diagnosed with HIV. The patient exhibited severe proximal tubulopathy and osteomalacia, emphasizing the need for vigilant monitoring in individuals on TDF‐based regimens.
Lavender Otom, Ben Lomatayo, Farida Kaittany, Priyanka Panwar, Ze’ev Korzets   +4 more
wiley   +1 more source

Type 1 tyrosinemia in Finland: a nationwide study

Orphanet Journal of Rare Diseases, 2020
Background Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure.
Linnea Äärelä, Pauliina Hiltunen, Tea Soini, Nina Vuorela, Heini Huhtala, Pasi I. Nevalainen, Markku Heikinheimo, Laura Kivelä, Kalle Kurppa   +8 more
doaj   +1 more source

Liver transplantation for tyrosinemia. A review of 10 cases from the University of Pittsburgh. [PDF]

, 1990
Results of liver transplantation in 10 patients with tyrosinemia are reviewed. The indications for transplantation were: hepatoma in three, acute liver failure in two, and progressive chronic liver disease in five. One patient died during surgery. Of the
Esquivel, CO, Koneru, B, Makowka, L, Mieles, L, Starzl, TE, Stieber, A, Todo, S, Tzakis, A, Van Thiel, D   +8 more
core  

A Colorimetric Multimetabolite Assay for Quantitative Measurement of Keto Acids in Urine for At‐Home Monitoring of Metabolic Disorders

Journal of Analytical Methods in Chemistry, Volume 2026, Issue 1, 2026.
Inborn errors of metabolism such as phenylketonuria (PKU) and maple syrup urine disease (MSUD) can cause severe developmental problems. Both conditions can lead to harmful levels of keto acids in biofluids—phenylpyruvic acid (PPA) in PKU and branched‐chain α‐keto acids in MSUD. Monitoring urinary keto acids helps track dietary adherence and reduces the
Dipanjan Bhattacharyya, Abby Kropielnicki, Brian L. Lee, Yeganeh Khaniani, Marcia A. LeVatte, David S. Wishart, Larisa Lvova   +6 more
wiley   +1 more source

Connecting the Dots: Bridging Microsamples and Conventional Blood Matrices in Metabolic Biomarker Analysis

Analytical Science Advances, Volume 6, Issue 2, December 2025.
ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu, Vasiliki Gkanali, Georgios Theodoridis, Helen Gika   +3 more
wiley   +1 more source