TY - CHAP M1 - Book, Section TI - Homocystinuria A1 - Hay, Jr, William W. A1 - Levin, Myron J. A1 - Deterding, Robin R. A1 - Abzug, Mark J. Y1 - 2017 N1 - T2 - Quick Medical Diagnosis & Treatment Pediatrics AB - Consider in a child of any age with a marfanoid habitus, dislocated lenses, or thrombosisDiagnosis is suggested by elevated total homocysteine and methionineNewborn screening allows early diagnosis and treatment resulting in a normal outcomeMost often due to deficiency of cystathionine β-synthase (CBS)May also be due to deficiency of methylenetetrahydrofolate reductase (MTHFR) or to defects in the biosynthesis of methyl-B12, the coenzyme for methionine synthaseAll inherited forms of homocystinuria are autosomal recessive traits SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1145456180 ER -