To develop simple and easy laboratory test to identify children with Energy deficiency disorders.
- Conditions
- Health Condition 1: E884- Mitochondrial metabolism disorders
- Registration Number
- CTRI/2023/11/060330
- Lead Sponsor
- Dr Saritha Kamath
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Yet Recruiting
- Sex
- Not specified
- Target Recruitment
- 0
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
insults.
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.
Children with conditions other than IEM will be excluded.
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method