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CBS AR unreviewed

Homocystinuria (CBS deficiency)

Methionine cycle / transsulfuration Cystathionine beta-synthase

Enzyme or protein defect

Cystathionine beta-synthase

Accumulates or becomes deficient

Homocysteine, methionine

Key features

Marfanoid habitus, DOWNWARD lens dislocation, thrombosis, intellectual disability, osteoporosis

Management

B6 (pyridoxine) trial, betaine, Met restriction, cysteine supplement

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

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Europe PMC · fetched just now · sorted by publication date

  1. 1
    Extended Lombardy's Neonatal Screening Dataset.

    Lopiano G, Alberti L, Cereda C, Cabitza F. · 2025-12-10

    open access unreviewed
  2. 2
    Oral and Poster Abstracts of the 13th ISNS European Regional Meeting.

    Hall K, Schielen PCJI, Platis D. · 2025-03-10

    cited 1× open access unreviewed
  3. 3
    Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

    Gonçalves MM, Marcão A, Sousa C, Nogueira C, Fonseca H, Rocha H, Vilarinho L. · 2024-03-20

    cited 6× open access unreviewed
  4. 4
    Second-tier strategies in newborn screening - potential and limitations.

    Gramer G, Hoffmann GF. · 2022-04-01

    cited 4× open access unreviewed
  5. 5
    Newborn Screening for SCID. Experience in Spain (Catalonia).

    Argudo-Ramírez A, Martín-Nalda A, González de Aledo-Castillo JM, López-Galera R, Marín-Soria JL, Pajares-Garc… · 2021-07-20

    cited 16× open access unreviewed
  6. 6
    Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

    Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, B… · 2020-12-28

    cited 36× open access unreviewed
  7. 7
    Implementation of second-tier tests in newborn screening for the detection of vitamin B<sub>12</sub> related acquired and genetic disorders: results on 258,637 newborns.

    Pajares S, Arranz JA, Ormazabal A, Del Toro M, García-Cazorla Á, Navarro-Sastre A, López RM, Meavilla SM, de … · 2021-04-30

    cited 25× open access unreviewed
  8. 8
    Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.

    Loeber JG, Platis D, Zetterström RH, Almashanu S, Boemer F, Bonham JR, Borde P, Brincat I, Cheillan D, Dekker… · 2021-03-05

    cited 178× open access unreviewed
  9. 9
    Folic Acid Supplementation in Patients with Elevated Homocysteine Levels.

    Kaye AD, Jeha GM, Pham AD, Fuller MC, Lerner ZI, Sibley GT, Cornett EM, Urits I, Viswanath O, Kevil CG. · 2020-08-26

    cited 102× open access unreviewed
  10. 10
    Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.

    Messina M, Arena A, Fiumara A, Iacobacci R, Meli C, Raudino F. · 2020-07-28

    cited 6× open access unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.