G0071
Glycine Quantitative CSF
Test Details: Glycine encephalopathy is an autosomal recessive disorder caused by defective function of glycine cleavage enzyme system, leading to accumulation of glycine in all the body tissues, including the CNS. Infants with classic disease present in the first week of life with apnoea, lethargy, severe hypotonia and feeding difficulties. Respiratory failure, hiccups and intractable seizures also develop.
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Category
Advanced Routine Diagnostics
Pre-test Information
Clinical history required. Provide provisional diagnosis of clinician for metabolic disorders or inborn errors of metabolism suspicion, if any. Fasting is recommended.
Report Delivery
8 working days
Gender
All
Organ
Multi-Organ
Glycine Quantitative CSF
6200
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