Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome

• DOI: 10.7860/jcdr/2017/28793.10632
• Publication Date: 2017-10-30T10:09:55Z
• Authors: Seema Pavaman Sin...
• Keywords: Propionic acidemia; Methylmalonic acidemia; Biotinidase deficiency

Introduction: Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors Metabolism (IEM) in India.With prompt recognition management, better survival but adverse neurodevelopmental outcome is reported. Aim:To study the clinical metabolic presentation, management with immediate long term symptomatic children OA. Materials Methods: Hospital based diagnosed to have OA 2003 2009 survivors followed up over next five years.Diagnosis was on presentation by spectrometry analyses urine blood.Management, outcome, compliance treatment recurrence crises were documented.Neurodevelopmental assessed follow up.Mean Standard Error (Mean ± SE) frequencies percentages calculated.Results: Of 72 cases suspected IEM, 38 (52.8%)were (IEM), out which 15 (39.5%) had OA.Methyl malonic acidemia, multiple carboxylase deficiency Propionic Acidemia (PA) constituted largest proportion.Neurodevelopmental issues (73.3%) crisis (53.3%) common presenting features.Mean SE ammonia 639.0±424.1 μg/dl lactate 33.6±4.9mg/dl.Mean pH, bicarbonate, anion gap 7.27±0.07,14.1±2.3 17.9±2.3respectively.Management protocol based.Death reported two PA; other morbidities seen five.Recurrent (46.7%) complicated survivors.Spasticity, extrapyramidal movement disorder, intellectual subnormality, autism spectrum, attention deficit hyperactivity disorder sensory neural deafness amongst survivors, spite therapy. Conclusion:OA part differential diagnosis sick needs be specific.Prognosis guarded even cofactor supplementation symptomatic.