Results 1 to 10 of about 6,449 (205)

Evaluation of serum NEAT1 and MALAT1 expression as diagnostic biomarkers in tyrosinemia, a rare metabolic disorder [PDF]

Orphanet Journal of Rare Diseases
Objective Tyrosinemia is a rare autosomal recessive inborn error of metabolism caused by a deficiency of fumarylacetoacetate hydrolase (FAH). This leads to the accumulation of toxic metabolites, resulting in progressive liver and kidney damage.
Nasrin Motazedian, Mohsen Mohammadi, Negar Azarpira, Kimia Falamarzi, Bita Geramizadeh, Seyed Mohsen Dehghani, Mahdokht Hossein-Aghdaie, Seyed Ali Malekhosseini, Mahintaj Dara   +8 more
doaj   +2 more sources

Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I [PDF]

BMC Pediatrics
Background Tyrosinemia type I is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH), an enzyme essential for the final breakdown of tyrosine.
Meenakshi B. Ramanna, Mahesh Kamate, Bhavana Koppad   +2 more
doaj   +2 more sources

Quantitative Succinylacetone Measurement by Gas Chromatography‐Tandem Mass Spectrometry (GC–MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias [PDF]

JIMD Reports
Tyrosinemia type 1 (HT1), due to deficient activity of fumarylacetoacetate hydrolase, causes accumulation of succinylacetone (SA). SA concentrations in urine and plasma of untreated HT1 patients are typically several thousand‐fold higher than normal ...
Denis Cyr, Bruno Maranda, Paula J. Waters   +2 more
doaj   +2 more sources

An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review [PDF]

Clinical Case Reports
Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation.
Mahsa Rouhafshari, Mohammad Hadi Imanieh, Mahdi Khazaei, Zahra Radaei, Hamide Barzegar   +4 more
doaj   +2 more sources

Are protein substitutes available in Italy for infants with inherited metabolic diseases all the same? [PDF]

Frontiers in Nutrition
IntroductionInherited metabolic diseases (IMDs) represent a major clinical challenge, especially during the neonatal and infant periods. They require tailored and long-term nutritional management to ensure proper growth and development.
Margherita Di Costanzo, Margherita Di Costanzo, Martina Tosi, Martina Tosi, Martina Muzi, Enrico Vito Buono, Valentina D’Onghia, Anna Munerati, Gabriele Tarditi, Simone Bruni, Elvira Verduci, Elvira Verduci, Giacomo Biasucci, Giacomo Biasucci   +13 more
doaj   +2 more sources

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes [PDF]

Orphanet Journal of Rare Diseases
The third known case in the country of Tyrosinemia type 1 is presented, a 10-month-old male infant who was referred to the emergency room due to hepatomegaly, compromised liver function, neurological deterioration, and abnormal urinary amino acids ...
Michael Vallejo, Valentina Villarreal, María Alejandra Guardiola, William Bachiller, Malory Moreno, Pedro Vargas, Lyssethe Juliana López   +6 more
doaj   +2 more sources

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1 [PDF]

International Journal of Neonatal Screening
Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic comorbidities. Early detection of this disorder is possible with newborn screening (NBS).
Barbra Charina V. Cavan, Leniza G. de Castro-Hamoy, Conchita G. Abarquez, Ebner Bon G. Maceda, Maria Melanie Liberty B. Alcausin   +4 more
doaj   +2 more sources

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)

The Application of Clinical Genetics, 2017
Anibh Martin Das Department of Pediatrics, Hannover Medical School, Hannover, Germany Abstract: Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product ...
Anibh M Das
exaly   +2 more sources

Hereditary tyrosinemia type 1 in an infant with multiple congenital defects

Лечащий Врач, 2023
Hereditary tyrosinemia type 1 or hepatorenal tyrosinemia is a severe orphan autosomal-recessive disorder of tyrosine metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH).
H. A. Sarkisyan, S. V. Cherkasova, A. A. Fadeeva, A. S. Yarushnikova, Yu. S. Piliuzina, A.  B. Smolyannikova, E. I. Shabelnikova, L. M.  Makarova, M. A. Ovsyannikova, L. A. Levchenko, T. G. Demyanova   +10 more
doaj   +1 more source

Genome Guided Personalized Drug Therapy in Attention Deficit Hyperactivity Disorder

Frontiers in Psychiatry, 2022
ADHD is a common behavioral syndrome with a heritability of 70–80%. Genome wide sequencing and association studies indicate that ADHD risk variants are distributed across a wide range of allele frequencies and relative risks.
Jan Haavik, Jan Haavik
doaj   +1 more source