Glycine encephalopathy may present with a spectrum of findings based on the severity of intra-uterine damage and residual ability to metabolize glycine. It may present any time from birth to adulthood and may range from life-threatening to mild.
Inheritance: autosomal recessive
Parameters:
(1) time of onset: neonatal period, infancy, after infancy
(2) severity: severe, attenuated, mild
The classic disease presents in a neonate with severe manifestations:
(1) lethargy
(2) hypotonia
(3) seizures (which may be difficult to control)
(4) myotonic jerks
(5) apnea, which often improves spontaneously
(6) coma
(7) severe mental retardation and mental delay
(8) spasticity
(9) hiccups
Findings in other forms of the disease may include:
(1) hyperactivity and irritability
(2) choreoathetosis
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