Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Alternative Names

  • Homocystinuria With or Without Response to Pyridoxine
  • Cystathionine Beta-Synthase Deficiency
  • CBS Deficiency
  • Hyperhomocysteinemia, Thrombotic, CBS-Related

Associated Genes

CBS Gene
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

236200

Mode of Inheritance

Autosomal recessive

Gene Map Locus

21q22.3

Description

Homocystinuria is an inherited metabolic disorder characterised by an increased blood and urine concentration of homocysteine and its metabolites. The clinical features of homocystinuria include myopia, ectopia lentis, skeletal anomalies and intellectual disability. The classic form of homocystinuria is caused by homozygous or compound heterozygous mutation in the CBS gene which encode an enzyme called cystathionine beta-synthase - an important component in the chemical pathway that coverts homocysteine to cystathionine.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
236200.1QatarUnknown Hyperhomocystinemia; Disproportionate...NM_000071.3:c.700G>AHomozygousAutosomal, RecessiveEl-Said et al. 2006 Patient from tribe S...
236200.2BahrainUnknown HyperhomocystinemiaNM_000071.3:c.1039G>AHomozygousAutosomal, RecessiveGan-Schreier et al. 2010 Patient from Qatar o...
236200.3.1SudanMaleYesYes Intellectual disability; Hyperhomocysti...NM_000071.3:c.770C>THomozygousAutosomal, RecessiveZaidi et al. 2012 Patient IV-2 from Fa...
236200.3.2SudanFemaleYesYes HyperhomocystinemiaNM_000071.3:c.770C>THomozygousAutosomal, RecessiveZaidi et al. 2012 Patient IV-3 from Fa...
236200.4.1Saudi ArabiaMaleNo Intellectual disability; Hyperhomocyst...NM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-1 from Fa...
236200.5.1Saudi ArabiaFemaleYes Intellectual disability; Hyperhomocysti...NM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-3 from Fa...
236200.5.2Saudi ArabiaFemaleYes Intellectual disability; Hyperhomocysti...NM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-2 from Fa...
236200.5.3Saudi ArabiaFemaleYes Hyperhomocystinemia; HypermethioninemiaNM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-4 from Fa...
236200.5.4Saudi ArabiaMaleYes Intellectual disability; Hyperhomocysti...NM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-1 from Fa...
236200.5.5Saudi ArabiaFemale HyperhomocystinemiaNM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient I-1 from Fam...
236200.6.1Saudi ArabiaFemaleNoYes HyperhomocystinemiaNM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient IV-1 from Fa...
236200.7.1Saudi ArabiaMaleNoYes Intellectual disability; Hyperhomocysti...NM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient IV-2 from Fa...
236200.8.1Saudi ArabiaFemaleYes HyperhomocystinemiaNM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-3 from Fa...
236200.8.2Saudi ArabiaFemaleYes Hyperhomocystinemia; Lens subluxation; ...NM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-2 from Fa...
236200.8.3Saudi ArabiaFemaleYes Hyperhomocystinemia; Hypermethioninemia...NM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-1 from Fa...
236200.9.1Saudi ArabiaFemaleYes Intellectual disability; Hyperhomocysti...NM_000071.3:c.1006C>THomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-1 from Fa...
236200.9.2Saudi ArabiaMaleYes Intellectual disability; Hyperhomocysti...NM_000071.3:c.1006C>THomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-2 from Fa...
236200.10.1Saudi ArabiaMaleYes Intellectual disability; Hyperhomocysti...NM_000071.3:c.1006C>THomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-1 from Fa...
236200.10.2Saudi ArabiaMaleYes Intellectual disability; Hyperhomocyst...NM_000071.3:c.1006C>THomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-2 from Fa...
236200.11Saudi ArabiaMaleNo Intellectual disability; Hyperhomocyst...NM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-1 from Fa...
236200.12Saudi ArabiaMaleNoYes Hyperhomocystinemia; Hypermethioninemia...NM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient IV-7 from Fa...
236200.13Saudi ArabiaMaleNo Intellectual disability; Hyperhomocysti...NM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-1 from Fa...
236200.14Saudi ArabiaMaleYesNo Hyperhomocystinemia; HypermethioninemiaNM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient IV-9 from Fa...
236200.15.1Saudi ArabiaMaleYesYes Intellectual disability; Hyperhomocysti...NM_000071.3:c.457G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-1 from Fa...
236200.15.2Saudi ArabiaMaleYesYes Intellectual disability; Hyperhomocysti...NM_000071.3:c.457G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient II-3 from Fa...
236200.16Saudi ArabiaMaleYesYes Intellectual disability; Hyperhomocysti...NM_000071.3:c.969G>AHomozygousAutosomal, RecessiveZaidi et al. 2012 Patient IV-12 from F...
236200.G.1QatarUnknown Hyperhomocystinemia; Disproportionate ...NM_000071.3:c.1006C>THomozygousAutosomal, RecessiveEl-Said et al. 2006 Group of patients fr...
236200.G.2.1QatarUnknown HyperhomocystinemiaNM_000071.3:c.1006C>THomozygousAutosomal, RecessiveZschocke et al. 2009 Group of 6 infants w...
236200.G.3QatarUnknown Hyperhomocystinemia; HypermethioninemiaNM_000071.3:c.1006C>THomozygousAutosomal, RecessiveGan-Schreier et al. 2010 Group of 7 infants w...

Other Reports

Kuwait

Five cases of homocystinuria were reported by Yadav and Reavey (1988), while studying the aminoacid profiles of 800 subjects during the course of three years in Al-Sabah Hospital, Kuwait.

In a study conducted to investigate the incidence of aminoacidopathies in intellectually disabled patients (187 institutionalized patients), Yadav et al. (1992) reported one case (0.23%) of homocystinuria.

Lebanon

In a retrospective analysis of IEMs diagnosed over a 12-year period (1998-2010) in a hospital in Lebanon, Karam et al. (2013) found 8 patients diagnosed with homocystinuria. The median age of diagnosis was 3-years.

Oman

Joshi et al. (2002) carried out a retrospective analysis of all patients diagnosed with inborn errors of metabolism in Sultan Qaboos University Hospital, Oman between June 1998 and December 2000. Among the 82 patients studied, one case of homocystinuria was reported.

Al-Riyami et al. (2012) reported three cases of homocystinuria in a study group of 1100 high-risk neonates referred to Sultan Qaboos University Hospital in Oman over a 10-year period (1998-2002).

Qatar

In a comparative study conducted by Elsaid et al. (2007), heterozygous carriers of CBS gene mutations were found to have increased levels of homocysteine, reduced levels of folic acid and B12 as compared to the control subjects. B6 levels between both groups did not have any significant differences.

Lindner et al. (2007) investigated 25,214 neonates born in Qatar for inborn errors of metabolism and endocrine disorders. Two neonates were diagnosed with classic homocystinuria.

The Centre for Arab Genomic Studies Work Group (2006) conducted a retrospective study for metabolic disorders described at Al Wasl Hospital in Dubai between 1995 and 2004. Among 64 patients diagnosed, only one case of homocystinuria was reported - in a 10-year-old male from Qatar.

Saudi Arabia

Moammar et al. (2010) reported incidence of homocystinuria as 2 in 100,000 live births based on a study conducted at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. All patients diagnosed with inborn errors of metabolism between 1983 to 2008 were included in the study. Out of 165530 infants born, four cases of classic homocystinuria were reported.

Harrison et al. (1998) reviewed the management of ophthalmic complications of homocystinuria in 45 patients. All patients were noted to have a history of lens subluxation or dislocation.

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