Abstract
Background: Organic acidemias (OA) are a group of heterogeneous metabolic inherited disorders characterized by the accumulation of organic acids in body fluids and tissues. These are rare disorders and infrequently reported worldwide. In Syria, there is a lack of information regarding these disorders. Objective: Our hospital-based study aimed to describe the pattern of clinical and demographic presenting features of organic acidemias among Syrian children and to shed light on the diagnostic experience of organic acidemias in the Children's Hospital of Damascus through a five year period. Material and methods: We conducted a retrospective cohort study by reviewing the medical records of OA patients in the Children's Hospital of Damascus between 2008 and 2012. All cases were investigated by metabolic work up, including the acylcarnitine profile performed by tandem mass spectrometry (MS/MS) and quantitative urine organic acid analysis performed by gas chromatography mass spectrometry (GC-MS). Results: A total of 70 OA confirmed cases were included in the study. There were 46 males and 31 females. Twenty-seven cases were diagnosed after the first year of life. Methylmalonic acidemia was the most frequent disorder (57.1%). There were relatively high rates of family history of unexplained death and OA confirmed cases (50%), consanguinity (74.2%) and mortality (21.4%). The most frequent symptoms were apnea or respiratory distress (65.7%) and vomiting (40%). Conclusion: The lack of specific confirmatory diagnostic tests being performed and the high mortality and consanguinity rates among OA patients suggests high incidence of OA in Syria. Further studies are needed to determine the actual incidence of OA and the cost-effectiveness of applying a governmental mandatory newborn screening program.
Highlights
Organic acid disorders or organic acidemias (OA) are a group of metabolic disorders resulting from enzymatic deficiencies in the catabolic pathway of branched-chain amino acids and lysine and disorders result in accumulation of lactic acid and dicarboxylic acids, which leads to the accumulation of organic acids in the body fluids and tissues.[1,2,3]
The confirmation was carried out by advanced diagnostic biochemical metabolic work up, including the acylcarnitine profile in dry blood spots performed by tandem mass spectrometry (MS/MS) and quantitative urine organic acid analysis performed by gas chromatography mass spectrometry (GC-MS), in collaboration with private laboratories in Damascus and abroad
Among the confirmed Organic acidemias (OA) cases, there were 40 cases (57.1%) of methylmalonic acidemia (MMA) including two siblings, 16 cases (22.9%) of propionic acidemia (PA) including two siblings, five cases (7.1%) of betaketothiolase (BKT) deficiency, four cases (5.7%) of isovaleric acidemia (IVA) including two siblings, two cases (2.9%) of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG-CoA), one case (1.4%) of glutaric acidemia type 1 (GA-1), one case (1.4%) of
Summary
Organic acid disorders or organic acidemias (OA) are a group of metabolic disorders resulting from enzymatic deficiencies in the catabolic pathway of branched-chain amino acids and lysine and disorders result in accumulation of lactic acid and dicarboxylic acids, which leads to the accumulation of organic acids in the body fluids and tissues.[1,2,3] The accumulation of these toxic substances or their metabolites and lack of products of the defective pathway lead to the pathophysiology of these disorders.[4]. Symptoms such as poor feeding, vomiting, hypotonia and lethargy.[1,6,7] In a milder form of the enzymatic deficiency, the onset of acute episodic symptoms is delayed and usually occurs within late infancy or even later, with symptom free intervals between attacks. These disorders can present as a chronic progressive form or even an asymptomatic form.[7] Patient prognosis can be much better with early diagnosis and treatment.[3,8]. Organic acidemias (OA) are a group of heterogeneous metabolic inherited disorders characterized by the accumulation of organic acids in body fluids and tissues. Conclusion: The lack of specific confirmatory diagnostic tests being performed and the high mortality and consanguinity rates among OA patients suggests
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