Linked Life Data

6305188

Source:http://linkedlifedata.com/resource/pubmed/id/6305188

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1983-7-8
pubmed:abstractText
We report here a case of red cell adenylate kinase (AK) deficiency associated with hereditary hemolytic anemia. The proband is a 10-year-old Japanese girl. Her physical and mental development was normal. She has shown moderate to mild hemolytic anemia since the neonatal period and hepatosplenomegaly. The red cell AK activity was 44% of normal. Contents of red cell glycolytic intermediates and adenine nucleotides were normal when compared with a comparable reticulocyte-rich control. Glucose consumption and lactate formation were normal. Hexose monophosphate shunt activity was somewhat lower than that of a comparable reticulocyte-rich control. There were no significant differences in the contents of adenine nucleotides between the younger and older red cells of the patient. Enzymatic characterization by hemolysate revealed that the patient's AK had an increased Michaelis constant for adenosine diphosphate and slight thermal instability. The patient's enzyme migrated approximately half-way between the AK 1 and AK 2 position on starch-gel electrophoresis. The mode of inheritance of this case is obscure. The mechanism of hemolysis might be a structural gene mutation that caused altered electrophoretic and kinetic properties.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0361-8609
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
325-33
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
Red cell adenylate kinase deficiency associated with hereditary nonspherocytic hemolytic anemia: clinical and biochemical studies.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't