| A case of glutaric acidemia type II (severe multiple acyl-CoA dehydrogenation disorder) with subsequent prenatal exclusion in a sibling. | |
| | |
MedLine Citation:
|
PMID: 1919819 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
A case of severe multiple acyl-CoA dehydrogenation disorder is described. This is the second such case reported to have had an elevated maternal serum alpha-fetoprotein and normal amniotic alpha-fetoprotein. The child's 3-day extrauterine life was characterized by intractable acidosis, respiratory distress, and ventricular fibrillation. The characteristic biochemical, morphologic, and microscopic findings of this condition are reviewed. A subsequent pregnancy was evaluated using chorionic villus sampling and analysis of cultured trophoblasts. The trophoblasts were biochemically normal, and a normal child was subsequently delivered. Since the manifestations of this disorder developed in utero, prenatal diagnosis and therapy offer the only hope for a more prolonged survival. |
| | |
Authors:
|
M D Medlock; W J Rhead; L Pollack; J T Meredith; G Pearl; C Reece |
Related Documents
:
|
15802419 - Persistent fetal hemoglobin in maternal circulation complicating the diagnosis of fetom... 3706409 - Diploid-triploid mosaicism: report of necropsy findings. 9438219 - Discrepancies in cytogenetic findings in chorionic villi. 15270409 - An unusal case of hermaphroditism--a 46,xx/69,xxy chimera. 9244119 - Cantrell's pentalogy. report of four cases and their management. 17990339 - Pilot test of prenatal surveillance for birth defects in south texas. 20714829 - Ectopic thyroid tissue within the gall bladder: case report and brief review of the lit... 1980969 - Possible formation of cutaneous amyloid from degenerative collagen fibers. ultrastructu... 19682009 - Review article: emergency department implications of the taser. |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
|
Title: Journal of perinatology : official journal of the California Perinatal Association Volume: 11 ISSN: 0743-8346 ISO Abbreviation: J Perinatol Publication Date: 1991 Sep |
Date Detail:
|
Created Date: 1991-11-21 Completed Date: 1991-11-21 Revised Date: 2009-11-19 |
Medline Journal Info:
|
Nlm Unique ID: 8501884 Medline TA: J Perinatol Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 227-30 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics, Orlando Regional Medical Center, Florida. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acidosis
/
pathology Cerebral Hemorrhage / pathology Electron-Transferring Flavoproteins* Fatty Acid Desaturases / deficiency* Fetal Diseases / diagnosis Glutarates / blood* Heart Defects, Congenital / pathology Humans Infant, Newborn Iron-Sulfur Proteins* Male Multienzyme Complexes / deficiency* Oxidoreductases Acting on CH-NH Group Donors* Polycystic Kidney Diseases / pathology Prenatal Diagnosis |
| Grant Support | |
ID/Acronym/Agency:
|
DK33289/DK/NIDDK NIH HHS |
| Chemical | |
Reg. No./Substance:
|
0/Electron-Transferring Flavoproteins; 0/Glutarates; 0/Iron-Sulfur Proteins; 0/Multienzyme Complexes; 110-94-1/glutaric acid; EC 1.14.19.-/Fatty Acid Desaturases; EC 1.5.-/Oxidoreductases Acting on CH-NH Group Donors; EC 1.5.5.1/electron-transferring-flavoprotein dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Current knowledge about skin-to-skin (kangaroo) care for preterm infants.
Next Document: Blood pressure patterns in the first three days of life.