• Talal AlAnzi, Fahad J Al Harbi, Joharah AlFaifii, and Sarar Mohamed.
• From the Department of Pediatrics (AlAnzi, Mohamed); from the Department of Biochemical laboratory (Al Harbi, AlFaifi), Prince Sultan Military Medical City; from the Prince Abdullah bin Khalid Celiac Disease Research Chair (Mohamed), King Saud University; and from the Department of Pediatrics (Mohamed), College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.
• Saudi Med J. 2021 Feb 1; 42 (2): 219-222.

AbstractClassic homocystinuria (CH) is an inborn error of metabolism caused by cystathionine beta-synthase enzyme deficiency. Affected patients present with intellectual disability and other comorbidities. If diagnosed early in infancy and started treatment, inevitable complications can be prevented. Newborn screening (NBS) uses tandem mass-spectroscopy (MSMS) to measure the amino acid levels. In CH, the first-tier screening test is the measurement of methionine by MSMS. If methionine remained elevated in the recall sample, plasma level for homocysteine is performed. A newborn infant underwent routine NBS in our institute that showed elevated methionine in the first and the recall sample. Thereafter, total serum homocysteine was found to be elevated, consistent with the diagnosis of CH. An early medical and dietary management was commenced for this first Saudi baby diagnosed with homocystinuria by universal NBS. This report demonstrates that NBS for CH is feasible and effective in preventing the disease burden.Copyright: © Saudi Medical Journal.

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