Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review

Child Neurology Open
Rayan Alfallaj, Majid Alfadhel

Abstract

Glycine transporter 1 encephalopathy (OMIM# 617301; glycine encephalopathy with normal serum glycine, GLYT1 transporter dysfunction, and nonketotic hyperglycinemia) is caused by mutations in the SLC6A9 gene. To date, 6 cases have been reported in the literature, characterized as having neonatal onset, respiratory failure that required mechanical ventilation, severe hypotonia at birth that progressed to limb hypertonicity, and startle-like responses provoked by sudden loud noises and tactile stimulation. Additional characteristics included dysmorphic features, musculoskeletal abnormalities, and abnormal antenatal findings. Initial diagnosis include elevated levels of glycine in cerebrospinal fluid and an elevated cerebrospinal fluid to plasma glycine ratio. Abnormal magnetic resonance imaging findings included white matter abnormalities, thin corpus callosum, dilatation of the lateral and third ventricles, caudate atrophy, and tiny cysts. Patients reported so far showed normal electroencephalogram results. Treatment was supportive and appeared severe as 50% of the patients died between 2 days and 7 months of age, while surviving children had global developmental delay. In this report, we reviewed the published cases having glyci...Continue Reading

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Citations

Dec 28, 2019·International Journal of Molecular Sciences·Raquel Yahyaoui, Javier Pérez-Frías

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