1/3. Acute metabolic crisis induced by vaccination in seven Chinese patients.Seven Chinese patients (5 males and 2 females) with vaccination-induced acute metabolic crisis were reported. Only one male with 21-hydroxylase deficiency had been diagnosed before vaccination. In the remaining six patients, the preexisting diagnoses were not confirmed before the vaccination. Acute metabolic crisis occurred in seven patients between 3 and 12 hours after the administration of Japanese encephalitis, diphtheria, and tetanus toxoids and acellular pertussis, hepatitis b, or measles vaccines. patients 1 and 2 displayed acute adrenal insufficiencies at the ages of 5 years and 3 months, respectively. Patient 3 had presented with mild motor retardation previously. patients 4 to 7 were previously healthy, but suffered from fever, seizures, coma, acidosis, and hypoglycemia after being vaccinated. Glutaric aciduria type 1 was evident in case 4. Leigh syndromes were present in patients 5, 6, and 7. They all died from respiratory failure before 2 years of age. Symmetric foci, cystic cavitations with neuronal loss, and vascular proliferation were observed by postmortem examination. Among the seven patients, although the vaccines were not the primary cause of the acute metabolic crisis, the severe acute episodes occurred coincidentally.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/3. Isolated adrenal mineralocorticoid deficiency due to amyloidosis associated with familial mediterranean fever.A patient with familial mediterranean fever (FMF) associated with renal amyloidosis, presented with hyperkalemia and acidosis which were excessive to his moderate degree of azotemia. The cause of this abnormality was isolated hypoaldosteronism with otherwise normal adrenal function and tubular capacity to transport potassium. This selective involvement of the zona glomerulosa stands in marked contrast to the usual sparing of the glomerulosa seen in post mortem studies of patients with FMF and amyloidosis reported from this country.- - - - - - - - - - ranking = 4keywords = deficiency (Clic here for more details about this article) |
3/3. propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency.A female infant with episodic hyperammonemia due to a disorder of the urea cycle and who had hyperlysinemia and an unusual elevation of short chain fatty acids, mainly propionate, is described. Both occurred apparently only during attacks of hyperammonemia. propionic acidemia was ruled out by enzyme studies. OTC deficiency was diagnosed on the basis of: 1) decreased enzyme activity in leukocytes;2) hyperammonemia in response to protein intakes in excess of 2.0 g/kg/day; 3) orotic aciduria in the patient and her asymptomatic mother; 4) suggestive evidence of x-linked dominant inheritance; and 5) exclusion of citrullinemia, argininosuccinic aciduria, argininemia, and disorders of lysine metabolism that are associated with hyperammonemia. Homocitrullinuria, presence of epsilon-N-acetyl-l-lysine in urine, and absence of saccharopine indicate deficiency of the saccharopine pathway of lysine degradation. However, alpha-ketoglutarate reductase was normal in fibroblasts. Since these metabolites were observed only in conjunction with hyperammonemia but not after a lysine load, we suggest that there was competition between ammonia and lysine for alpha-ketoglutarate. The link between disorders of the urea cycle and short chain fatty acid metabolism remains unexplained..- - - - - - - - - - ranking = 6keywords = deficiency (Clic here for more details about this article) |