Results 1 to 10 of about 6,373 (223)

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 Rep
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 ...
Cyr D, Maranda B, Waters PJ.
europepmc   +3 more sources

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric Experience. [PDF]

JIMD Rep
ABSTRACT Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options.
Adam AS, Marcélis L, Fage D, Mathieu E, Empain A, Dufour C, Cotton F, de Laet C.   +7 more
europepmc   +2 more sources

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

Front Nutr
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.
Di Costanzo M, Tosi M, Muzi M, Buono EV, D'Onghia V, Munerati A, Tarditi G, Bruni S, Verduci E, Biasucci G.   +9 more
europepmc   +2 more sources

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives. [PDF]

J Inherit Metab Dis
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Pietrobattista A, Martinelli D, Spada M, Dionisi-Vici C.   +3 more
europepmc   +2 more sources

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

Clin Case Rep
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.
Rouhafshari M, Hadi Imanieh M, Khazaei M, Radaei Z, Barzegar H.   +4 more
europepmc   +2 more sources

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

Orphanet J Rare Dis
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 ...
Vallejo M, Villarreal V, Guardiola MA, Bachiller W, Moreno M, Vargas P, López LJ.   +6 more
europepmc   +2 more sources

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

Int J Neonatal Screen
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).
Cavan BCV, de Castro-Hamoy LG, Abarquez CG, Maceda EBG, Alcausin MMLB.   +4 more
europepmc   +2 more sources

HPD degradation regulated by the TTC36-STK33-PELI1 signaling axis induces tyrosinemia and neurological damage

Nature Communications, 2019
Decreased expression of 4-hydroxyphenylpyruvic acid dioxygenase (HPD) has been linked to tyrosinemia, yet the mechanism underlying the regulation of HPD expression is largely unknown.
Yajun Xie, Rui Liu, Qin Zhou
exaly   +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