RT Journal Article
SR Electronic
T1 The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 219
OP 222
DO 10.15537/smj.2021.2.25643
VO 42
IS 2
A1 Talal AlAnzi
A1 Fahad J. Al Harbi
A1 Joharah AlFaifii
A1 Sarar Mohamed
YR 2021
UL http://smj.org.sa/content/42/2/219.abstract
AB Classic 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.