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HOMOCYSTINURIA, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (CBS)

HOMOCYSTINURIA, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (CBS)
CBS DEFICIENCY
236200
OMIM = Online Mendelian Inheritance of Men
394
Cystathionine beta-synthase
4.2.1.22
21q22.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E72.1
rare - 1:1800 (Qatar) - 1:60000 (Ireland) - 1:146000 (Japan)
autosomal recessive
50% pyridoxine-responsive patients
CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction
can develop severe hypermethioninemia and brain edema [Schwahn BC et al 2020]
Laboratory findingsBetaine normal/inc (urine)
    Ceruloplasmin inc (plasma)
    Copper inc (plasma)
    Cystine dec (plasma)
    Homocysteine inc (urine)
    Homocysteine inc (plasma)
    L-Homocystine inc (urine)
    L-Homocystine inc (plasma)
    Methionine inc (plasma)
    Methionine inc (urine)
    Ornithine inc (plasma)
    S-Adenosylhomocysteine inc (plasma)
    S-Adenosylmethionine inc (plasma)
Symptoms   arachnodyctyly
   arthritis
   behavior, abnormal or bizarre, confusion
   depression
   developmental delay
   dislocated lens (ectopia lentis)
   dystonia
   inguinal hernia
   intellectual disability/intellectual developmental disorder
   malar flush
   Marfanoid features
   osteoporosis
   pes cavus
   seizures
   skeletal changes, skeletal abnormalities
   skoliosis, kyphoskoliosis
   thromboembolism
    
    aortic valvular disease
    ataxia
    cerebral vascular disease
    chest deformity
    Coagulopathy/Coagulation factors
    EEG abnormalities [-]
    genu valgum
    glaucoma
    hair, abnormal (thin, brittle, fine)
    hand and/or feet deformities
    hypopigmentation
    liver, fatty
    mental retardation
    myoclonus
    myopia
    onset, adolescent
    onset, childhood
    optic atrophy
    pancreatitis
    retinal or macular degeneration
    strokelike episodes
    tall stature
    X-ray, abnormalities