Alkaptonuria

Alternative Names

  • AKU
  • Homogentisic Acid Oxidase Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

203500

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3q13.33

Description

Alkaptonuria is one of the four initially identified inborn errors of metabolism. The defect in this disease lies in the improper catabolism of the amino acids tyrosine and phenylalanine. This in turn, leads to the build up of homogentisic acid (HGA), a metabolic product of phenylalanine degradation. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
203500.1AlgeriaMaleYes Ochronosis; Arthropathy;NM_000187.3:c.1221G>AHeterozygousAutosomal, RecessiveLadjouze-Rezig et al. 2006 Has two affected son...
203500.2.1AlgeriaFemaleYesYes Ochronosis; Arthropathy;NM_000187.3:c.566G>THomozygousAutosomal, RecessiveLadjouze-Rezig et al. 2006 Sister of 203500.2.2...
203500.2.2AlgeriaFemaleYesYes Ochronosis; Arthropathy;NM_000187.3:c.566G>THomozygousAutosomal, RecessiveLadjouze-Rezig et al. 2006 Sister of 203500.2.1...
203500.3AlgeriaMale Ochronosis; Arthropathy;NM_000187.3:c.16-1G>AHomozygousAutosomal, RecessiveLadjouze-Rezig et al. 2006
203500.4AlgeriaFemaleNo Ochronosis; Arthropathy;NM_000187.3:c.652delGHeterozygousAutosomal, RecessiveLadjouze-Rezig et al. 2006 Compound heterozygot...
203500.5United Arab EmiratesUnknownNM_000187.3:c.175delHomozygousAutosomal, RecessiveAl-Shamsi et al. 2014; Ali et al. 2011
203500.6.1United Arab EmiratesUnknownYesNM_000187.3:c.175delHomozygousAutosomal, RecessiveAbdulrazzaq et al. 2009 Has two affected sib...
203500.6.2United Arab EmiratesMaleYesNM_000187.3:c.175delHomozygousAutosomal, RecessiveAbdulrazzaq et al. 2009 Brother of 203500.6....
203500.6.3United Arab EmiratesFemaleYesNM_000187.3:c.175delHomozygousAutosomal, RecessiveAbdulrazzaq et al. 2009 Sister of 203500.6.1...

Other Reports

Lebanon

Zouheir Habbal et al (2013) described a patient with both alkaptonuria and Pompe Disease. He was found to have three polymorphisms in exons 4, 5, and 6 of the HGD gene. 

In a retrospective analysis of IEMs diagnosed over a 12-year period (1998-2010) in a hospital in Lebanon, Karam et al. (2013) found two patients diagnosed with propionic acidemia. The median age of diagnosis was 1 year and 8-months. 

United Arab Emirates

Al-Shamsi et al. (2014) calculated the birth prevalence of Alkaptonuria to be less than 0.98 per 100,000 live births

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