Health Condition 1: E884- Mitochondrial metabolism disorders
Conditions
Interventions
Intervention1: NIL: NIL
Control Intervention1: NIL: NIL
Sponsors
Dr Saritha Kamath U
Eligibility
Inclusion criteria
Inclusion criteria: 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 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.
Exclusion criteria
Exclusion criteria: Children with conditions other than IEM will be excluded.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Method for screening: Lactate, pyruvate, acetoacetate, beta-hydroxy butyrate, amino acids and iron markers.Timepoint: 2 years | — |
Secondary
| Measure | Time frame |
|---|---|
| Lactate, pyruvate, lactate: pyruvate ratio, beta hydroxy butyrate, acetoacetate, betahydroxy butyrate :acetoacetate ratio, aminoacids, iron markers in blood, urine/saliva of children with suspected IEMTimepoint: 3 years | — |
Countries
India
Contacts
Public ContactDr Saritha Kamath U
MCHP, MAHE, Manipal
Outcome results
None listed