cystathionine synthase deficiency
[autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of cystathionine beta-synthase and associated with elevations of homocysteine in plasma and urine; clinical features include a tall, slender habitus, scoliosis, arachnodactyly, muscle weakness, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of mental retardation, and a tendency to develop fibrosis of arteries, frequently complicated by cerebrovascular accidents and myocardial infarction. ( CSP )]
UMLS (CSP) C0019880- Disease or Syndrome
Relation/PAR: Amino Acid Metabolism, Inborn Errors
Connective Tissue Disease
Arrieration mentale
enzyme deficiency
Connective Tissue Disease
Arrieration mentale
enzyme deficiency
Buy website
Medical Clinic. Optician. Pharmacy. Physician. Travel Agency. Hotel reservation. Child Care. Education. Teachers. Lessons. Tests and Exams. Certification. Shopping Center. Store. Real Estate.Affordable prices from $100.
  |
home
