Short chain acyl Co-A dehydrogenase deficiency a rare inborn error of metabolism.

Background & objectives: Short chain acyl coenzyme A dehydrogenase deficiency (SCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid β oxidation. The energy producing fatty acid oxidation pathway is affected at the first step due to deficiency of short chain acyl coA dehydrogenase and is manifested as lethargy, metabolic acidosis and hypoglycaemia. We report a case ofeight day old male neonate born to 32 year old female by caesarean delivery diagnosed with SCADD. Investigations: Blood investigations of haematology, serum electrolytes, and enzymes levels were done. Metabolic screening for TSH, galactosaemia, blood ammonia was also conducted. Results: Serum sample revealed elevated acyl carnitine levels and urine analysis for organic acid showed slightly elevated Methyl malonic acid. The neonate was mechanically ventilated and metabolic acidosis was corrected with 8.4 % sodium bicarbonate andintravenous dextrose. Carnitor syrup 5ml/500mg was started once daily and the neonate improved in general activity along with weight gain. Conclusion: Neonatal screening by biochemical method facilitates earlier diagnosis and, along with effective management prevents morbidity and prolongs survival.

Evaluation of oxidative protein damage in patients with hypercholesterolemia.

Background: Hypercholesterolemia is highly prevalent in Indian population and known to contribute towards increased mortality and morbidity related to cardiovascular and cerebrovascular disorders. An antioxidant defence system consisting of enzymatic and non-enzymatic compounds prevents oxidative damage of lipoproteins in the plasma. When the activity of this system decreases or the reactive oxygen species (ROS) production increases, oxidative stress may occur.The –SH group (reduced thiols) bound to proteins (protein thiols) play a major role in maintaining the antioxidant status of the body. Protein thiols acts as major extracellular antioxidant, they react with reactive oxygen species (ROS) and prevent LDL oxidation. Such thiols have been studied in different disease conditions and found to be decreased compared to healthy control samples. Reduced concentration of protein thiol found to have positive correlation with increase serum level of LDL cholesterol. In the current work we have measured the level of serum protein thiols along with lipid profile in newly diagnosed hyperlipidemic patients and we tried to establish the relationship between serum protein thiols and lipid profile parameters. Objective: To study the level of protein thiols as a potent antioxidant in patient with an increased level of cholesterol. Materials: After obtaining prior consent, blood (2 ml) was taken using aseptic precautions from hypercholesterolemic patients (n = 25) and age and sex matched healthy controls (n = 25) in plain vacutainers. Serum protein thiols were measured by spectrophotometric method using 5, 5′ dithio-bis (2-nitrobenzoic acid) (DTNB). Triglyceride levels were measured by Cobas 6000 using a GPO Trinder method and HDL levels by Cobas 6000 using a direct- homogenous method. LDL levels were calculated. Results: There was a significant decrease in the levels of protein thiols p< 0.001 in hypercholesterolemic patients when compared to healthy controls and a corresponding correlatable increase in the level of LDL cholesterol due to oxidative damage. Conclusion: There may be a role for protein thiols as a biomarker in pathophysiology of cardiovascular and cerebrovascular disorders in patients with hyperlipidemia.

Case report on an infant presenting with hypoglycemia, and milky serum

A 4-month-old male baby who presented in a moribund condition with seizures was found to have hepatomegaly, hypoglycemia and milky serum. Serum triglycerides were markedly elevated (3168 mg/dL) with cholesterol being 257 mg/dL and high density lipoprotein levels were low (19 mg/dL). The possibility of glycogen storage disease type I was considered in the diagnosis. Infants with glycogen storage disease type I may present like sepsis. The association of hepatomegaly, hypoglycemia and abnormal lipid profile stated above should alert the physician to consider glycogen storage disease type I in the diagnosis.