|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:metabolic_disorder
|
|
gptkbp:affects
|
gptkb:circulatory_system
gptkb:skeletal_muscle
gptkb:nervous_system
skeletal system
|
|
gptkbp:biochemicalMarker
|
methionine
cystathionine
homocysteine
|
|
gptkbp:category
|
gptkb:inborn_error_of_metabolism
gptkb:rare_disease
amino acid disorder
|
|
gptkbp:causedBy
|
defect in methionine metabolism
deficiency of cystathionine beta-synthase
mutation in CBS gene
|
|
gptkbp:complication
|
gptkb:cardiovascular_disease
stroke
seizures
mental retardation
|
|
gptkbp:diagnosedBy
|
elevated homocysteine in blood
elevated methionine in blood
urine homocystine test
|
|
gptkbp:firstDescribed
|
1962
|
|
gptkbp:gene
|
gptkb:CBS
|
|
gptkbp:ICD-10_code
|
E72.1
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:locatedOnChromosome
|
21q22.3
|
|
gptkbp:namedAfter
|
homocystine
|
|
gptkbp:OMIM
|
236200
|
|
gptkbp:prevalence
|
1 in 200,000 to 1 in 335,000 worldwide
|
|
gptkbp:relatedTo
|
gptkb:Marfan_syndrome
|
|
gptkbp:screenedAt
|
newborn screening
|
|
gptkbp:symptom
|
gptkb:intellectual_disability
gptkb:bone
myopia
tall stature
developmental delay
skeletal abnormalities
thromboembolism
lens dislocation
|
|
gptkbp:treatment
|
folic acid
vitamin B12
vitamin B6 (pyridoxine)
betaine
low-methionine diet
|
|
gptkbp:bfsParent
|
gptkb:Cystathionine_beta-synthase
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
homocystinuria
|