منابع مشابه
Identification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient
Beta thalassemia is the most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...
متن کاملAlkaptonuria: a very rare metabolic disorder.
Alkaptonuria (AKU) is a very rare autosomal recessive disorder of tyrosine metabolism in the liver due to deficiency of homogentisate 1,2 dioxygenase (HGD) activity, resulting in the accumulation of homogentisic acid (HGA). Circulating HGA pass into various tissues through-out the body, mainly in cartilage and connective tissues, where its oxidation products polymerize and deposit as a melanin-...
متن کاملAlkaptonuria in a 6 Year Old Patient: Case Report
Alkaptonuria is a rare disorder of tyrosine catabolism. A 6 year old male child presented with history of darkish staining of the toilet commode following voiding. The urine when kept in a sterile container for a few hours turned black. Urine examination showed massive amounts of homogentisic acid. Patient was diagnosed as alkaptonuria.
متن کاملAlkaptonuria in a middle-aged female
Background: Alkaptonuria (AKU) or ochronosis is a rare progressive degenerative arthropathy that results from deficiency of enzyme homogentisate 1,2 dioxygenase (HGD). The features include arthritis of the spine and in larger peripheral joints, with chondrocalcinosis. In this paper, we present a case of alkaptonuria in a 54 year old woman in Tehran, Iran. Case Presentation: A 54 year old woman ...
متن کاملAlkaptonuria.
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...
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ژورنال
عنوان ژورنال: Indian Journal of Child Health
سال: 2020
ISSN: 2349-6118,2349-6126
DOI: 10.32677/ijch.2020.v07.i03.011