Clinico-Biochemical Presentation of Classical Organic Aciduria Presenting as Intoxication in Tertiary Care Hospital of Peshawar
Safia Rehman, Naumana Rehman, Khalil Ur Rehman, Ejaz Hassan Khan, Ahmad Rafiq, Ihsanullah
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ABSTRACT
Background: About 5 million children died in 2017 in developing
countries alone, amongst them 15-20% are due to inherited metabolic disorders.
Inherited metabolic disorders like Methyl Malonic Aciduria, Isovaleric aciduria,
Glutaric Aciduria type 1, Urea cycle defects, Maple syrup urine disease &
multiple carboxylase deficiency present mostly as intoxication, ataxia and
convulsions
Objective:To find the pattern of classical organic aciduria in
children of different age and gender
Methodology: This cross-sectional descriptive study was conducted at
Paediatrics department of Town Women & Children Hospital, Peshawar from Aug
2018- Aug 2020. Patients aged 0-24 months were included in the study based on
inclusion criteria.Clinical data, preliminary investigations and urinary
organic acids profile were collected. Data were analysed using SPSS version 21.
Results: Out of 178 total patients, 36 patients were diagnosed with
classical Organic aciduria in this present study. Mean age of the study
population was 0.865+/- 1.07654 years and range of 1 - 2 years. About 20(53%)
cases were males, while 16(47%) cases were females. Major clinical and
biochemical findings included seizures, feeding difficulties, developmental
delay, neurological impairment, and motor weakness, hypoglycemic and metabolic
acidosis.
Conclusion: The cases positive for inherited metabolic disorder showed a
significant prevalence. Methyl Malonic Aciduria was the commonest of the OAs
found in Northern areas of Pakistan followed by 3- Methyl Glutaconic
aciduria.Simple heel prick test alongside blood gas analysis and confirmatory
test by urinary Gas Chromatography Mass Spectrometry were helpful in diagnosis
of such inherited metabolic disorder.
Keywords: Intoxication; Organic
aciduria;Ethyl Malonic aciduria; Fumaric Aciduria
ABSTRACT
Background: About 5 million children died in 2017 in developing
countries alone, amongst them 15-20% are due to inherited metabolic disorders.
Inherited metabolic disorders like Methyl Malonic Aciduria, Isovaleric aciduria,
Glutaric Aciduria type 1, Urea cycle defects, Maple syrup urine disease &
multiple carboxylase deficiency present mostly as intoxication, ataxia and
convulsions
Objective:To find the pattern of classical organic aciduria in
children of different age and gender
Methodology: This cross-sectional descriptive study was conducted at
Paediatrics department of Town Women & Children Hospital, Peshawar from Aug
2018- Aug 2020. Patients aged 0-24 months were included in the study based on
inclusion criteria.Clinical data, preliminary investigations and urinary
organic acids profile were collected. Data were analysed using SPSS version 21.
Results: Out of 178 total patients, 36 patients were diagnosed with
classical Organic aciduria in this present study. Mean age of the study
population was 0.865+/- 1.07654 years and range of 1 - 2 years. About 20(53%)
cases were males, while 16(47%) cases were females. Major clinical and
biochemical findings included seizures, feeding difficulties, developmental
delay, neurological impairment, and motor weakness, hypoglycemic and metabolic
acidosis.
Conclusion: The cases positive for inherited metabolic disorder showed a
significant prevalence. Methyl Malonic Aciduria was the commonest of the OAs
found in Northern areas of Pakistan followed by 3- Methyl Glutaconic
aciduria.Simple heel prick test alongside blood gas analysis and confirmatory
test by urinary Gas Chromatography Mass Spectrometry were helpful in diagnosis
of such inherited metabolic disorder.
Keywords: Intoxication; Organic
aciduria;Ethyl Malonic aciduria; Fumaric Aciduria