Selective screening for organic acidurias and amino acidopathies in Pakistani children

Objective: To determine the frequency of organic acidurais [OA] and amino acidopathies [AA] in selected high-risk patients screened in two years

Study Design: Retrospective Observational study

Place and Duration of Study: The Aga Khan University Hospital [AKUH], Karachi, from January 2013 to December 2014

Methodology: Patients with OA and AA were included in the study and patients with IMDs other than OA and AA were excluded. Amino acids and organic acids were analyzed on high performance liquid chromatography and gas chromatography-mass spectrometry respectively. Clinical data and chromatograms of patients screened for IMDs were reviewed by chemical pathologist and metabolic physician

Results: Eighty-eight cases [4.7%] were diagnosed including 41 OA [46.5%], 28 AA [31.8%] and 19 others [21.5%] from 1,866 specimens analyzed. Median age of the patients was 1.1 years, with high consanguinity rate [64.8%]. Among OA, methyl CoA mutase deficiency was diagnosed in 9 [10.2%] and was suspected in 2 [2.3%] cases. Five [5.7%] cases of MHBD [2-methyl-3-hydroxybutyryl-CoA], 4 [4.5%] each of PPA [propionic aciduria] and HMG-CoA lyase deficiency, 3 [3.4%] cases each of IVA [isovaleric aciduria], multiple carboxylase deficiency, fructose-1, 6-biphosphatase deficiency, fumarase deficiency, GA-1 [glutaric aciduria type 1] and 2 [2.3%] cases of EMA [ethyl-malonic aciduria]. AA included 8 [9.1%] cases of MSUD [maple syrup urine disease], 6 [6.8%] cases of CBS [cystathionine beta-synthetase] and UCDs [urea cycle disorders] each, 5 [5.7%] cases of hyperphenylalaninemia and 3 [3.4%] cases of hyperprolinemia were reported. Other inherited metabolic disorders included: 9 [10.2%] cases of intracellular cobalamin defects, 2 [2.3%] cases each of alkaptonuria, Canavan's disease, SUCL [succinate CoA ligase] deficiency, and 1 [1.1%] case each of DPD [dihydropyrimidine] deficiency, GA-2, NKH [non-ketotic hyperglycinemia], AADC [aromatic amino acid decarboxylase] deficiency

Conclusion: This study presents frequency of OA and AA in the high-risk Pakistani pediatric population analyzed locally

Causes of tooth extraction: three years follow-up of two teaching hospitals in Karachi

The objective of this study was to describe the causes on tooth extraction among the general population attending oral surgery outpatient department of two teaching hospitals in Karachi. Demographics of the public and private sector hospitals were compared. Prospective study of a cohort of adults [mean age 33.86 +/- 13.65] who had detailed extraction record and demographic data collected during the previous 3 years [2005 -2007]. The study was carried out at Oral Surgery Outpatient Department Fatima Jinnah Dental College Hospital and at Karachi Medical and Dental College. A total of 24580 subjects from KMDC and 21891 subjects from FJDC were included in the study. The main outcome measures were Chewing habits, education, brushing frequency and brushing timing in relation to tooth loss. The primary causes of dental extraction were dental caries 67.04% [31158], followed by periodontal causes 21.68% [10075] and impacted wisdom teeth 4.64% [2074]. Few extractions were performed in cases in which the patient needed a prosthetic solution 2.63% [1225] or orthodontic treatment 0.28% [130] or due to cosmetic concerns and discoloration 0.05% [26]. Dental carries came out to be the commonest cause of extraction. The results of this study demonstrated the need for policymakers in the country to consider oral health on priority so that people have awareness about the hazards thus leading to reduction of morbidity and tooth loss