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Diagnostic practice for organic acidemias: barriers to early diagnosis
  1. Rajkumar L Agarwal,
  2. Mamta N Muranjan
  1. Department of Paediatrics, KEM Hospital, Parel, Mumbai, India
  1. Dr Mamta N Muranjan, 3rd floor, 16-B, Suman Apartments, Naushir Bharucha Road, Tardeo, Mumbai 400007, India; muranjanmamta{at}

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Survival and quality of life for organic acidemias (OA) is improving due to early diagnosis with newborn screening and vigorous management.13 In contrast, in countries without newborn screening, patients may not be diagnosed, are misdiagnosed or diagnosed late with permanent sequels, as the key factor determining diagnosis and subsequent prognosis is physician’s acumen. We speculated that late suspicion was an obstacle for early diagnosis of OA. We therefore retrospectively studied 69 patients to determine the period from onset of symptoms to final diagnosis and the stage at which delays occurred. Our results are summarised in table 1.

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Table 1 Age parameters (in months) of patients with symptomatic presentation of organic acidemias

Late suspicion was documented in all these patients. The maximum delay was observed with neonatal and early …

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  • Competing interests: None.