Results 21 to 30 of about 1,688 (193)

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status. [PDF]

J Inherit Metab Dis
ABSTRACT Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre‐processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on alkaptonuria (AKU), a rare disorder that affects the spine and involves other sequelae; treatments include
Flaharty KA, Chandrasekar V, Castillo IJ, Duong D, Ferreira CR, Ledgister Hanchard S, Hu P, Waikel RL, Rossignol F, Introne WJ, Solomon BD.   +10 more
europepmc   +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 Rep
ABSTRACT 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, hence are readily recognized by traditional diagnostic methods in most cases.
Cyr D, Maranda B, Waters PJ.
europepmc   +2 more sources

Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria

Metabolites, 2022
Changes in the phenylalanine (PHE)/tyrosine (TYR) pathway metabolites before and during homogentisic acid (HGA)-lowering by nitisinone in the Suitability of Nitisinone in Alkaptonuria (AKU) 2 (SONIA 2) study enabled the magnitude of the flux in the ...
Lakshminarayan R. Ranganath, Andrew T. Hughes, Andrew S. Davison, Milad Khedr, Richard Imrich, Mattias Rudebeck, Birgitta Olsson, Brendan P. Norman, George Bou-Gharios, James A. Gallagher, Anna M. Milan   +10 more
doaj   +1 more source

Effect of Nitisinone on Aortic Stenosis Disease Progression in Patients With Alkaptonuria: An Analysis of the Suitability of Nitisinone in Alkaptonuria (SONIA) 2 Study. [PDF]

Cureus
Background and aim Alkaptonuria (AKU) is a rare metabolic disorder characterised by the accumulation of homogentisic acid (HGA). Deposition of HGA in the aortic valve leading to progressive aortic stenosis is a serious complication. Nitisinone has been shown to improve morbidity and slow disease progression in AKU, but the effects of this treatment on ...
Bruce C, Meenamkuzhy-Hariharan P, Hussain S, Eleuteri A, Ranganath L, Fisher M, Imrich R, Arnoux JB, Olsson B, Rudebeck M.   +9 more
europepmc   +4 more sources

Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria

JIMD Reports, 2022
In an open‐label, controlled study of nitisinone in alkaptonuria (SONIA 2), patients were advised to lower dietary protein intake to reduce serum tyrosine (s‐Tyr) levels and the risk of keratopathy.
Birgitta Olsson, Lakshminarayan Ranganath, Jean‐Baptiste Arnoux, Richard Imrich, Anna Milan, Mattias Rudebeck   +5 more
doaj   +1 more source

Nutritional interventions for patients with alkaptonuria: A minireview

Endocrine Regulations, 2023
Alkaptonuria (AKU, OMIM, No. 203500) is a rare, slow-progressing, irreversible, multisystemic disease resulting from a deficiency of the homogentisate 1,2-dioxygenase enzyme, which leads to the accumulation of homogentisic acid (HGA) and subsequent ...
Imrich Richard, Zatkova Andrea, Lukacova Olga, Sedlakova Jana, Zanova Elizabeth, Vlcek Miroslav, Penesova Adela, Radikova Zofia, Havranova Andrea, Ranganath Lakshminarayan   +9 more
doaj   +1 more source

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries. [PDF]

J Inherit Metab Dis
Abstract Hepatorenal tyrosinaemia (HT1) is an autosomal recessive disorder of tyrosine degradation resulting in hepatic and renal dysfunction, neurological sequelae may occur in some patients. The use of nitisinone (NTBC) has revolutionised treatment and outcome of this disorder. NTBC has to be combined with a low protein diet. While NTBC modulates the
Das AM, Ballhausen D, Haas D, Häberle J, Hagedorn T, Janson-Mutsaerts C, Janzen N, Sander J, Freisinger P, Karall D, Meyer U, Mönch E, Morlot S, Rosenbaum-Fabian S, Scholl-Bürgi S, Vom Dahl S, Weinhold N, Zeman J, Lange K.   +18 more
europepmc   +2 more sources

Clinical Images: Stubborn low back pain under the eyes. [PDF]

ACR Open Rheumatol
ACR Open Rheumatology, Volume 7, Issue 7, July 2025.
Gil W, Soubrier M.
europepmc   +2 more sources

Nitisinone-Induced Keratopathy in Alkaptonuria Disease: A Case Report and Literature Review [PDF]

Journal of Clinical and Diagnostic Research, 2018
We report a case of nitisinone-induced keratopathy in a 52-year-old male patient with Alkaptonuria (AKU) disease in Jordan. The patient presented with slight drop of left eye vision for the last four weeks, associated with a foreign body sensation in his
Khalid Mousa Al Zubi, Mohammed Salem Alsbou, Mahmoud Hussein Alkhasawneh, Hani Mosleh Al-Shagahin   +3 more
doaj   +1 more source

Use of nitisinone in patients with alkaptonuria [PDF]

Metabolism, 2005
Alkaptonuria, a rare autosomal recessive disorder caused by mutations in the HGD gene and deficiency of homogentisate 1,2 dioxygenase, is characterized by ochronosis, arthritis, and daily excretion of gram quantities of homogentisic acid (HGA). Nitisinone, an inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase, can drastically reduce urinary ...
Suwannarat, Pim, O'Brien, Kevin, Perry, Monique B., Sebring, Nancy, Bernardini, Isa, Kaiser-Kupfer, Muriel I., Rubin, Benjamin I., Tsilou, Ekaterina, Gerber, Lynn H., Gahl, William A.   +9 more
openaire   +2 more sources