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The known recessive genetic defects that cause homocystinuria are summarized here: Cystathionine -synthase deficiency Homocysteine, in its oxidized disulfide form (Figure 1), was first detected in the urine of two siblings with intellectual disability in Ireland in 1963 (29)

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Common diagnosis codes paired with H0032 include F41.1 (generalised anxiety disorder), F32.9 (major depressive disorder), and F43.10 (post-traumatic stress disorder)

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After folic acid is consumed, its converted to its active form in the body by the action of an enzyme

( Figures 1A, B , dotted lines), remaining HLA molecules were investigated, specifically HLA-DP and HLA-DQ, using the same samples ( Figures 1B , samples 1-6)