| Carrier detection of pyruvate carboxylase deficiency in fibroblasts and lymphocytes. | |
| | |
MedLine Citation:
|
PMID: 116187 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Pyruvate carboxylase (E.C. 6.4.1.1) activity was determined in the circulating peripheral lymphocytes and cultured skin fibroblasts from the family of a patient with hepatic, cerebral, renal cortical, leukocyte, and fibroblast pyruvate carboxylase deficiency (PC Portland deficiency). Lymphocyte activities were: mother, 33--39%; father, 11--29%; brother, 82--103%; and sister, 38--48% of the lowest normal. Fibroblasts from the patient's mother and father had 42 and 34%, respectively, of the activity of the lowest normal. These data demonstrate that the disease is inherited in an autosomal recessive manner and that lymphocytes and fibroblasts can be used to detect carriers. Neither pyruvate carboxylase nor mitochondrial PEPCK activity in lymphocytes was increased by a 21-hr fast. |
| | |
Authors:
|
B M Atkin |
Related Documents
:
|
6219067 - Ifn-alpha-induced modulations of the events in human mixed lymphocyte cultures. 6538587 - Augmentation of chinese hamster lymphocyte stimulation by cysteine. 156947 - Human leucocyte interferon: analysis of effect on mlc and effector cell generation. 23375747 - A new start-pcr approach to detect and quantify fish viral hemorrhagic septicemia virus... 790857 - Survival of t. pallidum under microaerobic conditions in cell and tissue cultures. 2494977 - Effect of eflorithine on intestinal regeneration. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Pediatric research Volume: 13 ISSN: 0031-3998 ISO Abbreviation: Pediatr. Res. Publication Date: 1979 Oct |
Date Detail:
|
Created Date: 1980-01-28 Completed Date: 1980-01-28 Revised Date: 2007-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 0100714 Medline TA: Pediatr Res Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 1101-4 Citation Subset: IM |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Cells, Cultured Child Child, Preschool Citrate (si)-Synthase / metabolism Clinical Enzyme Tests* Fasting Female Fibroblasts / enzymology* Heterozygote Detection / methods* Humans Infant Infant, Newborn Lymphocytes / enzymology*, ultrastructure Male Middle Aged Mitochondria / enzymology Phosphoenolpyruvate Carboxykinase (GTP) / metabolism Pyruvate Carboxylase / metabolism Pyruvate Carboxylase Deficiency Disease* |
| Chemical | |
Reg. No./Substance:
|
EC 2.3.3.1/Citrate (si)-Synthase; EC 4.1.1.32/Phosphoenolpyruvate Carboxykinase (GTP); EC 6.4.1.1/Pyruvate Carboxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Aldose reductase and sorbitol dehydrogenase in the muscle of Ascaris suum (Nematoda).
Next Document: Inhibitory effect of cystic fibrosis serum on pseudomonas phagocytosis by rabbit and human alveolar ...