2005 71:189–91.On top of that, being Black and a new mom, I was afraid of being judged because of how my daughter’s hair looks. Bilateral spontaneous rupture of quadriceps tendon as an initial presentation of alkaptonuria-a case report. Aortic valve stenosis due to Alkaptonuria. Brueck M, Bandorski D, Kramer W, Schoenberg M, Von Gerlach S, Tillmanns H.Rayana N, Chahed N, Khochtali S, Ghorbel M, Hamdi R, Rouis M, Bouajina I, Ben Hadj Hamida F.ochronosis: a case report with multisystemic affection, including pericardium. Allelic heterogeneity of Alkaptonuria in Central Europe. Müller CR, Fregin A, Srsen S, Srsnova K, Halliger-Keller B, Felbour U, Seemanova E, Kress W.Alkaptonuria in Slovakia: 32 years research on phenotype and genotype. Srsen S, Müller CR, Fregin A, Srsnova K.Elsevier Publication: Indian reprint 2008. In: Kleigman, Behrman, Jenson, Stanton, editor.
Defects in metabolism of amino acids: Tyrosine. There is no recommendation for pediatric use till date. It inhibits 4-hydroxyphenylpyruvate hydroxylase, which mediates formation of homogentisic acid (Figure (Figure1). Nitisinone, a tyrosine degradation inhibitor, has been very restricted use in experimental treatment. Vitamin C supplementation as an antioxidant is not helpful. Dietary restriction of protein is not recommended in children. There is no definite treatment of this disorder. Another early presentation was reported at the age of ten years with the complaint of bluish discoloration of sclera. So far we have reviewed the literature our case is the earliest age of presentation from India. A case of bilateral spontaneous rupture of both quadriceps tendons has been described. There are reports of aortic valve stenosis and concomitant coronary artery disease. The urine turns black on standing or staining the diaper is the first feature of this disorder but majority of parents fail to note or attend with this complaint rather an adult patient with this disorder usually present in the fourth decade with arthritis, ocular, cutaneous and cardiovascular ochronosis. Examination of eyes, musculoskeletal systems, skin, and cardiovascular system was normal.Īlkaptonuria is a very rare disorder. Quantitative examination of urine revealed concentration of homogentisic acid in urine was 112 mg/dl (normally HA is not present in urine). Qualitative urine examination showed dark greenish black discoloration due to presence of homogentisic acid (Figure (Figure2). White diaper changed to black stain few hours after discharge of urine. Physical and systemic examination revealed no abnormality. On examination the baby was found alert and active, weight 6 kg, length 64 cm, head circumference 39.5 cm. The family resides in a village named Parijatnagar under Memari police station in the Burdwan district, West Bengal. She was exclusively breast fed and immunized at per. There was no history of antenatal, intranatal and postnatal problem. She was the first issue, born of a non-consanguineous marriage. The baby was otherwise normal and healthy. She noticed that first at the age of two and half month. The mother of a four month old female baby attended in well baby clinic with the history of blackish discoloration of diapers after passing urine.
HO is required in the metabolism of phenyl alanine and tyrosine during the step when homogentisic acid (HA) is converted to maleyl acetoacetate (Figure (Figure1 1). The disorder is due to deficiency of homogentisate 1,2 dioxygenase also known as homogentisic acid oxidase (HO). An analysis of the allelic association with intragenic DNA markers and of the geographic origins of the AKU chromosomes suggests that several independent founders have contributed to the gene pool, and that subsequent genetic isolation is likely to be responsible for the high prevalence of AKU in Slovakia.
Following the cloning of the homogentisate-1,2 dioxygenase (HGD) from human and mouse, different mutations were identified. The AKU locus was mapped to human chromosome 3q2 by orthology to see the mouse locus aku. Extensive genealogical studies resulted in the fusion of several 'unrelated' nuclear families into larger pedigrees and enabled tracing most AKU ancestors to their original geographical localities, predominantly in remote mountain areas. Based on a screening programme, highest incidence of AKU (1 in 19000) was recorded in Slovakia. There are countries in the world Slovakia for example where this recessive condition is much commoner. Incidence of this disease is 1 in 250000. Alkaptonuria (AKU) is a rare metabolic disorder inherited as an autosomal recessive mode.
0 kommentar(er)
