Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.
J Inherit Metab Dis
; 12(3): 286-92, 1989.
Article
in En
| MEDLINE
| ID: mdl-2482386
ABSTRACT
This paper reports the prenatal diagnosis of HMG CoA lyase deficiency at 16 weeks' gestation by direct chemical analysis of cell-free amniotic fluid and by measurement of HMG CoA lyase activity in cultured amniocytes. Termination of an affected fetus allowed study of chorionic villus tissue, the results providing the basis for future first trimester prenatal diagnoses of this condition. An abstract report of this work has appeared elsewhere.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prenatal Diagnosis
/
Amino Acid Metabolism, Inborn Errors
/
Glutarates
/
Meglutol
/
Oxo-Acid-Lyases
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
J Inherit Metab Dis
Year:
1989
Document type:
Article
Affiliation country:
United kingdom