Methylmalonic aciduria (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. They are characterized by impaired conversion of methymalonyl CoA to succinyl CoA by the enzyme methylmalonyl CoA mutase resulting in accumulation of metabolites of branched chain amino acid catabolism. MMA has a wide clinical spectrum, ranging from a benign condition to fatal neonatal disease. Its onset ranges from the neonatal period to adulthood. We report a case of a day 4 old male child who presented with the complaints of respiratory distress, poor feeding, and excessive crying. Mother had a history of previous neonatal loss on day 3 of life. Diagnosis of MMA was made with the help of clinical presentation and laboratory investigations. At present universal newborn screening for metabolic disorders is not done routinely in India. Diagnosing and managing IEM in India and other developing countries is a challenge since most of the classic metabolic test are not routinely available. Many cases are asymptomatic and undetected and hence we report this case to stress the importance of including MMA in newborn screening programme for early detection and intervention.

Sickle-cell disease (SCD) a hereditary autosomal recessive disorder is the most common haemoglobinopathy worldwide. In India, it is the second most common haemoglobinopathy next to Thalassemia, prevalent in the tribal population of Central and Southern parts of India. The pathophysiology of the disease is point mutation in the beta globin chain leading to sickling of RBCs which causes obstruction in microvasculature leading to acute events like Vaso-occlusive crisis. Patients with SCD are also at an increase of orthopaedic manifestation like osteomyelitis, septic arthritis or osteonecrosis. We report a case of a 10 months old male child who presented with anaemia and fever. Child was diagnosed with SCD, later developed swelling of right shoulder joint and restrictions of movements. Diagnosis of septic arthritis of shoulder with scapular osteomyelitis was made with the help of radiological and laboratory investigations. Child was managed with injectable antibiotics and symptomatic treatment. Patients with SCD as a result of occlusion of microvasculature along with immunocompromised state are at higher risk of bacterial infections. Osteomyelitis is one of the dreaded complications. Its clinical presentation is similar to that of VOC hence there occurs a dilemma in diagnosis. A multidisciplinary approach including high degree of clinical suspicion, laboratory investigation and radiological imagining can help in early diagnosis and management.