Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria"

David K. Rassin; Lynn D. Fleisher; Angus Muir; Robert J. Desnick; Gerald E. Gaull

doi:10.1016/0009-8981(79)90001-9

Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria"

David K. Rassin, Lynn D. Fleisher, Angus Muir, Robert J. Desnick, Gerald E. Gaull

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Free amino acid concentrations have been measured in the tissues of a fetus at risk for argininosuccinic aciduria and of an obligate heterozygous fetus in a mother homozygous for homocystinuria. Argininosuccinic acid was detected in all tissues studied of the homozygous affected fetus from the heterozygous mother. Abnormal concentrations of methionine and cystathionine were observed in the tissues of the fetus who was an obligate heterozygote for homocystinuria. These abnormal free amino acid concentrations occur early in fetal development and may be related to later brain dysfunction.

Original language	English (US)
Pages (from-to)	101-108
Number of pages	8
Journal	Clinica Chimica Acta
Volume	94
Issue number	2
DOIs	https://doi.org/10.1016/0009-8981(79)90001-9
State	Published - Jun 1 1979
Externally published	Yes

ASJC Scopus subject areas

Biochemistry
Clinical Biochemistry
Biochemistry, medical

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10.1016/0009-8981(79)90001-9

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title = "Fetal tissue amino acid concentrations in argininosuccinic aciduria and in {"}maternal homocystinuria{"}",

abstract = "Free amino acid concentrations have been measured in the tissues of a fetus at risk for argininosuccinic aciduria and of an obligate heterozygous fetus in a mother homozygous for homocystinuria. Argininosuccinic acid was detected in all tissues studied of the homozygous affected fetus from the heterozygous mother. Abnormal concentrations of methionine and cystathionine were observed in the tissues of the fetus who was an obligate heterozygote for homocystinuria. These abnormal free amino acid concentrations occur early in fetal development and may be related to later brain dysfunction.",

author = "Rassin, {David K.} and Fleisher, {Lynn D.} and Angus Muir and Desnick, {Robert J.} and Gaull, {Gerald E.}",

note = "Funding Information: This work was supported by the New York State Department of Mental Hygiene, a grant (l-578) from the National Foundation March of Dimes, a grant (GM 25279) from the National Institutes of Health, and a grant from the Clinical Research Center program of the Division of Research Resources, National Institutes of Health (RR-400, RR-71). Dr. Desnick is the recipient of an NIH researchc areer award (K04 AM 00451).",

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doi = "10.1016/0009-8981(79)90001-9",

language = "English (US)",

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TY - JOUR

T1 - Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria"

AU - Rassin, David K.

AU - Fleisher, Lynn D.

AU - Muir, Angus

AU - Desnick, Robert J.

AU - Gaull, Gerald E.

N1 - Funding Information: This work was supported by the New York State Department of Mental Hygiene, a grant (l-578) from the National Foundation March of Dimes, a grant (GM 25279) from the National Institutes of Health, and a grant from the Clinical Research Center program of the Division of Research Resources, National Institutes of Health (RR-400, RR-71). Dr. Desnick is the recipient of an NIH researchc areer award (K04 AM 00451).

PY - 1979/6/1

Y1 - 1979/6/1

N2 - Free amino acid concentrations have been measured in the tissues of a fetus at risk for argininosuccinic aciduria and of an obligate heterozygous fetus in a mother homozygous for homocystinuria. Argininosuccinic acid was detected in all tissues studied of the homozygous affected fetus from the heterozygous mother. Abnormal concentrations of methionine and cystathionine were observed in the tissues of the fetus who was an obligate heterozygote for homocystinuria. These abnormal free amino acid concentrations occur early in fetal development and may be related to later brain dysfunction.

AB - Free amino acid concentrations have been measured in the tissues of a fetus at risk for argininosuccinic aciduria and of an obligate heterozygous fetus in a mother homozygous for homocystinuria. Argininosuccinic acid was detected in all tissues studied of the homozygous affected fetus from the heterozygous mother. Abnormal concentrations of methionine and cystathionine were observed in the tissues of the fetus who was an obligate heterozygote for homocystinuria. These abnormal free amino acid concentrations occur early in fetal development and may be related to later brain dysfunction.

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JO - Clinica Chimica Acta

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ER -

Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria"

Abstract

ASJC Scopus subject areas

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