Preventive use of nitisinone in alkaptonuria [PDF]
Orphanet Journal of Rare Diseases, 2021 Alkaptonuria (AKU, OMIM 203500) is a rare congenital disorder caused by a deficiency of the enzyme homogentisate-1,2,-dioxygenase. The long-term consequences of AKU are joint problems, cardiac valve abnormalities and renal problems. Landmark intervention
Bruce H. R. Wolffenbuttel +2 more
doaj +5 more sources
Type 1 tyrosinemia in Finland: a nationwide study [PDF]
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 +8 more
doaj +6 more sources
Inter‐laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples [PDF]
JIMD Reports, 2020 Background Nitisinone is used to treat hereditary tyrosinemia type 1 (HT‐1) by preventing accumulation of toxic metabolites, including succinylacetone (SA). Accurate quantification of SA during newborn screening is essential, as is quantification of both
Hilde Laeremans +9 more
doaj +2 more sources
Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria [PDF]
Metabolites, 2022 Metabolomic analyses in alkaptonuria (AKU) have recently revealed alternative pathways in phenylalanine-tyrosine (phe-tyr) metabolism from biotransformation of homogentisic acid (HGA), the active molecule in this disease.
Brendan P. Norman +12 more
doaj +4 more sources
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries. [PDF]
J Inherit Metab DisHepatorenal tyrosinaemia (HT1) is an autosomal recessive disorder of tyrosine degradation resulting in hepatic and renal dysfunction, neurological sequelae may occur in some patients.
Das AM +18 more
europepmc +4 more sources
Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice. [PDF]
, 2015 Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder resulting from a deficiency of homogentisate 1,2 dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine.
A Schulz +10 more
core +4 more sources
JIMD ReportsHereditary 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 ...
Anne‐Sophie Adam +7 more
doaj +2 more sources
Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria [PDF]
Scientific Reports, 2022 Nitisinone (NIT) produces inevitable but varying degree of tyrosinaemia. However, the understanding of the dynamic adaptive relationships within the tyrosine catabolic pathway has not been investigated fully.
L. R. Ranganath +11 more
doaj +3 more sources
Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone
RMD Open, 2022 Objectives Ochronotic spondyloarthropathy represents one of the main clinical manifestations of alkaptonuria (AKU); however, prospective data and description of the effect of nitisinone treatment are lacking.Methods Patients with AKU aged 25 years or ...
Lakshminarayan R Ranganath +19 more
doaj +3 more sources
Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism [PDF]
Genes and Diseases, 2022 Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic acid (HGA), the main agent in the ...
Brendan P. Norman +12 more
doaj +4 more sources