ArticleJournal of clinical and diagnostic research : JCDR2017
Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome.
Article in Journal of clinical and diagnostic research : JCDR, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 9 citations in OpenAlex.
- Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort.Journal of inherited metabolic disease · 2026Article
- Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes.BMJ case reports · 2022Article
- Clinical and Genetic Spectrum of 50 Children with Inborn Errors of Metabolism from Central India.Indian journal of pediatrics · 2022Article
- Use of single solvent thin layer chromatography to diagnose different organic acidurias.The Indian journal of medical research · 2021Article
- Clinical Spectrum of Inherited Disorders of Metabolism.Indian journal of pediatrics · 2019Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionOrganic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors of Metabolism (IEM) in India. With prompt recognition and management, better survival but adverse neurodevelopmental outcome is reported.
aimTo study the clinical and metabolic presentation, management with immediate and long term outcome of symptomatic children with confirmed OA. MATERIALS AND
methodsHospital based study of symptomatic children diagnosed to have OA between 2003 and 2009 and the survivors followed up over next five years. Diagnosis was based on clinical and metabolic presentation and confirmed by spectrometry analyses of urine and blood. Management, immediate outcome, compliance to treatment and recurrence of crises were documented. Neurodevelopmental outcome was assessed in follow up. Mean with Standard Error (Mean ± SE) and frequencies with percentages were calculated.
resultsOf 72 cases suspected to have IEM, 38 (52.8%) were confirmed of (IEM), and out of which 15 (39.5%) had OA. Methyl malonic acidemia, multiple carboxylase deficiency and Propionic Acidemia (PA) constituted the largest proportion. Neurodevelopmental issues (73.3%) and metabolic crisis (53.3%) were common presenting features. Mean ± SE of ammonia was 639.0±424.1 μg/dl and lactate was 33.6±4.9 mg/dl. Mean pH, bicarbonate, and anion gap was 7.27±0.07, 14.1±2.3 and 17.9±2.3 respectively. Management was protocol based. Death was reported in two cases of PA; other morbidities were seen in five. Recurrent crisis (46.7%) complicated the follow up in survivors. Spasticity, extrapyramidal movement disorder, intellectual subnormality, autism spectrum, attention deficit hyperactivity disorder and sensory neural deafness were seen amongst survivors, in spite of compliance to therapy.
conclusionOA is part of differential diagnosis in sick children and treatment needs to be prompt and specific. Prognosis is guarded even with long term cofactor supplementation in the symptomatic.
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