Results 31 to 40 of about 2,793 (181)
Neurology International, 2017 Alkaptonuria is a rare metabolic disease characterised by accumulative deposition of homogentisic acid in the connective tissue of the body. This results in early degeneration of tendons, cartilages, heart valves, and other tissues. The main objective of
Omar Alrawashdeh +3 more
doaj +1 more source
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. [PDF]
J Inherit Metab DisABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Moio MR +7 more
europepmc +2 more sources
ALKAPTONURIA SYNDROME-A REVIEW [PDF]
, 2022 Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues ...
AMURUTHAVALLI, B. +4 more
core +1 more source
Lumbar disc herniation in ochronosis
Indian Spine Journal, 2019 Alkaptonuria is a rare metabolic, autosomal recessive disorder caused by the deficiency of homogentisic acid oxidase and it is characterized by bluish-black discoloration of cartilages, skin (Ochronosis), degenerative changes in the articular, extra ...
Subbiah Jayakumar +2 more
doaj +1 more source
, 2013 Alkaptonuria (AKU) is an autosomal recessive inborn error metabolism resulting from deficiency of homogentisic acid oxidase (homogentisate 1, 2-dioxygenase) that is required in the metabolism of phenylalanine and tyrosine during the step when ...
Nelwan, Martin L.
core +1 more source
Hip and knee replacement in patients with ochronosis: Clinical experience and literature review
Orthopedic Reviews, 2020 Patients with alkaptonuria can present ochronotic degenerative arthropathy due to the accumulation of pigments in the cartilages. Ochronotic arthropathy initially affects the spine, then there is the involvement of the other large joints, with greater ...
Cesare Meschini +8 more
doaj +1 more source
JIMD Reports, 2022 Background Outcomes from studies employing nitisinone 10 mg and 2 mg in alkaptonuria were compared. Patients and methods Sixty‐nine patients in each of the nitisinone (10 mg daily) and controls of suitability of nitisinone in alkaptonuria 2 (SONIA 2), as
Lakshminarayan R. Ranganath +10 more
doaj +1 more source
Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
Frontiers in Surgery, 2023 BackgroundAlkaptonuria is a rare autosomal genetic disorder with an incidence of about 1 in 1 million per year. Spinal involvement often manifests in the later stages of the disease.
Hong Ding +4 more
doaj +1 more source
Ochronotic Chronic Tendoachilles Rupture Management: A Case Series [PDF]
Journal of Foot and Ankle Surgery (Asia Pacific)Background: Alkaptonuria is a rare inherited genetic disorder in which there is a deficiency of the enzyme homogentisate 1,2-dioxygenase. The three characteristics of alkaptonuria are homogentisic-aciduria, ochronosis, and ochronotic arthropathy ...
Jeremy B Dorai, Issac Jebaraj
doaj +1 more source