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PMID: 6711559 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.

American journal of human genetics ·Vol. 36 ·No. 2 ·1984-03-00 ·Pages 320-8

Holzgreve W, Golbus MS

Abstract

The prenatal diagnosis of ornithine transcarbamylase deficiency (OTCD) was made by using radioactive microassays for ornithine transcarbamylase (OTC) and--as an internal control--carbamyl phosphate synthetase (CPS I) in liver biopsy material from two 19-week-old at-risk fetuses. In each case, no OTC activity could be detected, while CPS I activity was normal. Control fetuses of 17-21 weeks gestation had OTC activities in the range of 10.7 to 19.4 mumol/mg protein per hr. The prenatal results were confirmed post abortum by the radiochemical assays and by an enzyme-specific cytochemical staining method.

MeSH Terms
Abortion, Eugenic Adult Biopsy Carbamoyl-Phosphate Synthase (Ammonia)/metabolism Female Fetus Histocytochemistry Humans Liver/enzymology,pathology Male Ornithine Carbamoyltransferase Deficiency Disease Pregnancy Pregnancy Trimester, Second Prenatal Diagnosis Risk
Chemicals
Carbamoyl-Phosphate Synthase (Ammonia)
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Holzgreve W
Golbus M S
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22 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1984-03-00
Pages
320-8
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684429
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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