Add to ORKGAlkaptonuria (AKU) is a disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme homogentisate 1,2-dioxygenase (HGD). This recessive disease is caused by mutations in the HGD gene. We report a 14-year-old girl who was referred after presenting black urine. Careful examination revealed ochronosis of the conjunctiva. There was no affection of the cardiac valves. Elevated excretion of homogentisic acid in urine was found. Sequence analysis of the HGD gene from genomic DNA revealed that the patient is a compound heterozygote with a previously described mutation (c.473C > T, p.Pro158Leu), and a novel one (c.821C > T, p.Pro274Leu). Her mother is heterozygous for the novel mutation, while the brother is heterozygous for...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
© 2014 Habbal et al.Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemi...
Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the...
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding f...
Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive d...
SummaryAlkaptonuria (AKU), a rare hereditary disorder of phenylalanine and tyrosine catabolism, was ...
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxid...
Alkaptonüri, nadir görülen otozomal resesif geçişli bir doğumsal metabolizma hastalığıdır. Tirozin v...
Ochronosis or alkaptonuria is a rare, autosomal recessive metabolic disease where the enzyme homogen...
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system inv...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonuria (AKU) or endogenous ochronosis is a very rare inborn error of tyrosine metabolism inher...
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system inv...
Abstract Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which...
Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-di...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
© 2014 Habbal et al.Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemi...
Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the...
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding f...
Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive d...
SummaryAlkaptonuria (AKU), a rare hereditary disorder of phenylalanine and tyrosine catabolism, was ...
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxid...
Alkaptonüri, nadir görülen otozomal resesif geçişli bir doğumsal metabolizma hastalığıdır. Tirozin v...
Ochronosis or alkaptonuria is a rare, autosomal recessive metabolic disease where the enzyme homogen...
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system inv...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonuria (AKU) or endogenous ochronosis is a very rare inborn error of tyrosine metabolism inher...
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system inv...
Abstract Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which...
Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-di...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
© 2014 Habbal et al.Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemi...
Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the...