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Diagnosis

For patients with suspected or known Inborn errors of metabolism, successful emergency treatment depends on prompt institution of therapy aimed at metabolic stabilization.

Diagnosis at Neonatal stage -
We draw our inspiration from Late Dr K. Taranath Shetty (NIMHANS, Bangalore, India) for his pioneering work in furthering the awareness of newborn screening. According to him, "Early diagnosis for the right medical interventions at the right time can save a child's life".

Asymptomatic neonates with newborn screening results coming positive for an inborn error of metabolism may require emergency evaluation including confirmatory testing and as appropriate initiation of disease-specific management.

Global Screening for Metabolic Errors.
If experienced pediatrician /metabolic diseases experts are involved, diagnosis can be made through a combination of clinical observations, laboratory evaluations, cerebral imaging and muscle biopsies

  1. Initial Approach:

    • Rule out non-metabolic causes of symptoms such as infection or asphyxia.
    • Laboratory assessment prior to therapy.
    • Blood: glucose, newborn screen, CBC with differential, platelets, pH and PaCO2, electrolytes for anion gap, liver function tests, total and direct bilirubin, PT, PTT, uric acid. Blood ammonia, lactate and pyruvate should be collected and analyzed immediately for Newborn Screening.
  2. Carnitine / Acylcarnitine profile & organic acid profile
  3. Aminoacid profile
  4. Biochemical profile & chromosomal analysis
  5. DNA analysis
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