Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status [PDF]
Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.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
Kendall A. Flaharty +10 more
wiley +2 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. Loss of HGD function prevents metabolism of homogentisic acid (HGA), leading to increased levels of plasma HGA and urinary excretion.
Keenan, CM +8 more
openaire +4 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, Volume 67, Issue 2, March 2026.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.
Denis Cyr +2 more
wiley +2 more sources
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German‐speaking countries [PDF]
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.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
Anibh M. Das +18 more
wiley +2 more sources
Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes [PDF]
Orphanet Journal of Rare DiseasesThe 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 +6 more
doaj +2 more sources
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 +5 more
doaj +1 more source
Adequacy of nitisinone for the management of alkaptonuria
Annals of Medicine & Surgery, 2022 Alkaptonuria is a rare hereditary disease with a defective enzyme that results in increased homogentisic acid levels in the body. Homogentisic acid accumulates in multiple body parts and initializes tissue damage. Clinical manifestations such as pigmentation of the skin areas and joint destruction result in ochronosis.
Abbas, Khawar +2 more
openaire +2 more sources
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 +9 more
doaj +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 +8 more
doaj +1 more source
Nitisinone causes acquired tyrosinosis in alkaptonuria [PDF]
Journal of Inherited Metabolic Disease, 2020 AbstractFor over two decades, nitisinone (NTBC) has been successfully used to manipulate the tyrosine degradation pathway and save the lives of many children with hereditary tyrosinaemia type 1. More recently, NTBC has been used to halt homogentisic acid accumulation in alkaptonuria (AKU) with evidence suggesting its efficacy as a disease modifying ...
Milad Khedr +14 more
openaire +2 more sources