Validation of a minimally invasive/non-invasive method for screening biomarkers of Energy metabolism disorder in clinically detected IEM children - Not applicable

Dr Saritha Kamath0 个研究点目标入组 0 人开始时间: 待定最近更新: 2023年12月19日

研究概览

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•Abnormal baseline biochemical metabolic work-up for Blood lactate, pyruvate, ammonia.
•Criteria for abnormal (elevated) result is as follows.
•a. Elevated lactate: pyruvate ratio: more than 25 (normal <25)
•b. Elevated lactate level: more than 20 mg/dl (normal 5-20 mg/dl)
•c. Hyperammonaemia: more than 70 µg/dl (normal 20-70 µg/dl)
•? Details of family history and clinical findings for including the patients were as follows.
•Newborns, infants/ children below 3 years showing any of the following.
•1) History of sibling deaths with similar symptoms in the absence of significant perinatal
•2) Myoclonic seizures in a child with no significant perinatal insults.
•3) Weak cry or poor suck at birth despite being delivered at term with no asphyxia.
•4) Excessive lethargy.
•5) Regression of milestones following a minor intercurrent illness.
•6) Hypotonia with difficult to elicit deep tendon reflexes with laboratory features revealing
•elevated serum lactate levels.

发起方

Dr Saritha Kamath