Glycogen storage disease type III with hypoketosis.

A rare case of glycogen storage disease type III with unusually absent ketone body production during hypoglycemia is presented. A 10-month-old boy presented with asymptomatic hepatomegaly. GOT/GPT 2555/1160 IU/L, CK 302 IU/L, triglycerides 1223 mg/dL, cholesterol 702 mg/dL and uric acid 7.9 mg/dL. After a 9-hour fast, glucose was 27 mg/dL and adequate lipolysis without ketogenesis was observed (total/free carnitine 34.5/20 micromol/L, free fatty acids 1620 micromol/L and beta-hydroxybutyrate 172 micromol/L). Result of MCT (medium-chain triglycerides) load test: basal hydroxybutyrate 29 micromol/L rose to 5748 micromol/L. Treatment with a fat-restricted diet supplemented with formula containing MCT was initiated and the patient presented a satisfactory initial evolution. Three months later, CK were 3000 IU/L. Muscle biopsy was diagnostic of glycogenosis. Enzymatic activity in skin fibroblasts was 0% for amylo-1,6-glucosidase. The diagnosis of glycogenosis type III was established. Echocardiography performed at that time showed non-obstructive ventricular hypertrophy. Until now hypoketosis during hypoglycemia has only been described in glycogenosis type I.

[Nutritional rickets in childhood: analysis of 62 cases]. / Raquitismo carencial en la infancia: análisis de 62 casos.

BACKGROUND AND OBJECTIVE: Until recently, rickets secondary to vitamin D deficiency was considered a medical oddity rather than a clinical reality in Catalonia (Spain). However, recent data show a reemergence of the disease in the infancy. PATIENTS AND METHOD: Retrospective clinical survey of epidemiologic and clinical features of infants and children (34 boys and 28 girls) diagnosed of nutritional rickets in pediatric departments of Catalonia (Spain) over the last 10 years. RESULTS: Mean age (SD) at diagnosis was 9.9 (7) months (range: 3-36), 35.5% were under 6 months. Race distribution: blacks 61.3%, dark-skinned 36%; white 6.4%. Country of origin: Sub-Saharan Africa 59.7%, Morocco 33.9%, Catalonia 3.2%, Pakistan 1.6%. Seasonal distribution: 60% were diagnosed in autumn and winter. At diagnosis, 72% were following an exclusive milk diet (48% maternal milk alone) without vitamin D supplementation. Most common clinical presentation in infants under 6 months was: hypocalcemic tetany/seizures; in children aged 6-12 months: failure to thrive; and in children over 12 months: skeletal deformities. Weight and height expressed as z-score value at diagnosis was 0.67 and 0.91, respectively. CONCLUSIONS: Nutritional rickets is a current reality in Catalonia and it mainly affects immigrant infants and children from Sub-Saharan Africa and Morocco, black or dark-skinned, fed with maternal milk alone, without vitamin D supplementation and with little sun exposure. Systematic, preventive supplementation with vitamin D is essential in these populations.