Al Arrayed et al. (1999) applied newborn screening to 1000 Bahraini newborns taken at random during two years. Preliminary results showed 10 abnormal cases out of 1000 newborns (incidence 1%); although it was expected to find 100 affected births with metabolic diseases in every 1000 newborns annually. Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity was commonly found among Bahraini infants.

[Al Arrayed SS, Al Jishi E, Abbasi A, Rashed MS, Ozand PT. Newborn screening by using mass spectrometry. Bahrain Med Bull. 1999; 21(4)]

See also: Saudi Arabia > Al-Essa et al., 1999.

Al-Essa et al. (1999) reported the cases of three infants, two Saudi and one Bahraini, MTHFR deficiency. The Bahraini patient and one Saudi infant were both diagnosed late and their disease was severe resulting in neurological crippling and significant neuroradiological abnormalities. However, the third patient was effectively treated early with a high dose of methionine. The patient was 12-days of age when she presented with lethargy, poor sucking and rooting reflexes, vomiting, continuous hiccups, and episodes of apnea. Her height, weight, and head circumference were below the 5th percentile, and she had, in addition, moderate hypotonia, retinal degeneration, and anomalous optic discs. Blood analysis revealed absolute neutropenia, normal platelet count, and normal hemoglobin. Urinalysis showed a positive nitroprusside test. Tandem MS revealed abnormally low methionine in the blood, and high homocystine and cystathionine levels in the urine, pointing to a diagnosis of MTHFR deficiency, which was confirmed by enzyme analysis. Brain scans showed immature cortical gyral pattern and diffuse cerebral white matter edema in the MRI, diffuse background attenuation in the EEG, and faint cerebral and cerebellar cortical activities in the FDG-PET. The patient was treated with high doses of methionine (400-600 mg/kg daily), in addition to other supportive medication. Within a week, no homocystinuria could be detected. Her clinical condition improved dramatically, and after six months, the FDG-PET was normal. At the time of publication of the report, the patient (14-months old) was perfectly normal neurologically, apart from a mild spasticity.