[Clinical demonstrations of hereditary disorders of metabolism].
Case reports are presented on 4 outpatients with hereditary disorders of metabolism. 1. In a 46-year-old male of Sicilian origin with haemolytic anaemia and leg ulcers, the blood contained numerous target cells, the sickling test was positive, and more than 80% of the haemoglobin was found to be HbS. Investigation of the family revealed double heterozygosity for HbS and beta-thalassaemia. 2. In a family with hereditary nonspherocytic haemolytic anaemic, the biochemical characterization of an abnormal pyruvate kinase is reported: the kinetic data were found to be normal, the electrophoretic migration rate of the abnormal enzyme was increased, and its thermostability was marked decreased. 3. Malignant hyperthermia was observed in an 18-year-old male. The limited value of all methods for identifying affected family members is discussed. 4. In 2 sisters who suffered life-threatening attacks of acute myoglobinuria, differential diagnosis comprised hereditary deficiency of phosphofructokinase, muscle phosphorylase and carnitine palmityl transferase. The activity of the former two enzymes was found to be normal. The circumstances of the myolytic crisis in the two patients provide strong evidence for the presence of a muscle carnitine palmityl transferase deficiency.
D000255:Adenosine Triphosphate / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D000743:Anemia, Hemolytic / Q000209:etiology; D000768:Anesthesia, General / Q000009:adverse effects; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D050356:Lipid Metabolism; D008297:Male; D008305:Malignant Hyperthermia / Q000209:etiology; D008659:Metabolic Diseases / Q000235:genetics*; D008875:Middle Aged; D009212:Myoglobinuria / Q000235:genetics; D005082:Physical Exertion; D011770:Pyruvate Kinase / Q000172:deficiency; D012805:Sickle Cell Trait / Q000150:complications; D013789:Thalassemia / Q000150:complications
D000255:Adenosine Triphosphate; D011770:Pyruvate Kinase
Klinische Demonstrationen von hereditären Stoffwechselstörungen.