3-hydroxy-3-methylglutaric aciduria

Carol L. Greene; Howard M. Cann; Brian H. Robinson; Kenneth M. Gibson; Lawrence Sweetman; Jan Holm; William L. Nyhan

doi:10.3109/01677068409107082

3-hydroxy-3-methylglutaric aciduria

Carol L. Greene, Howard M. Cann, Brian H. Robinson, Kenneth M. Gibson, Lawrence Sweetman, Jan Holm, William L. Nyhan

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

15 Scopus citations

Abstract

3-Hydroxy-3-methylglutaric aciduria was found in a newborn infant whose parents are first cousins. The patient presented at 5 days of life with hyperammonemia, hypoglecemia, and metabolic acidosis. There was no ketonuria. Diagnosis was made by analysis of the pattern of organic acids excreted in the urine. A profound deficiency in activity of 3-hydroxy-3-methylglutaryl-coenzyme A lyase was found in cultured skin fibroblasts. The parents had intermediate levels of enzyme activity.

Original language	English (US)
Pages (from-to)	165-173
Number of pages	9
Journal	Journal of Neurogenetics
Volume	1
Issue number	2
DOIs	https://doi.org/10.3109/01677068409107082
State	Published - 1984
Externally published	Yes

Keywords

3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA lyase
Hyperammonemia
Hypoglycemia -metabolic acidosis without ketonuria

ASJC Scopus subject areas

Genetics
Cellular and Molecular Neuroscience

Access to Document

10.3109/01677068409107082

Cite this

@article{ad10da7b6b8c44d7833cbd690e79662b,

title = "3-hydroxy-3-methylglutaric aciduria",

abstract = "3-Hydroxy-3-methylglutaric aciduria was found in a newborn infant whose parents are first cousins. The patient presented at 5 days of life with hyperammonemia, hypoglecemia, and metabolic acidosis. There was no ketonuria. Diagnosis was made by analysis of the pattern of organic acids excreted in the urine. A profound deficiency in activity of 3-hydroxy-3-methylglutaryl-coenzyme A lyase was found in cultured skin fibroblasts. The parents had intermediate levels of enzyme activity.",

keywords = "3-hydroxy-3-methylglutaric aciduria, 3-hydroxy-3-methylglutaryl-CoA lyase, Hyperammonemia, Hypoglycemia -metabolic acidosis without ketonuria",

author = "Greene, {Carol L.} and Cann, {Howard M.} and Robinson, {Brian H.} and Gibson, {Kenneth M.} and Lawrence Sweetman and Jan Holm and Nyhan, {William L.}",

note = "Funding Information: Aided by U.S. Public Health Service Grant HD 04608 from the National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD and Grant MCJ-004007 from the Offices of Maternal and Child Health, Department of Health and Human Services, Rockville, MD.",

year = "1984",

doi = "10.3109/01677068409107082",

language = "English (US)",

volume = "1",

pages = "165--173",

journal = "Journal of Neurogenetics",

issn = "0167-7063",

publisher = "Informa Healthcare",

number = "2",

}

TY - JOUR

T1 - 3-hydroxy-3-methylglutaric aciduria

AU - Greene, Carol L.

AU - Cann, Howard M.

AU - Robinson, Brian H.

AU - Gibson, Kenneth M.

AU - Sweetman, Lawrence

AU - Holm, Jan

AU - Nyhan, William L.

N1 - Funding Information: Aided by U.S. Public Health Service Grant HD 04608 from the National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD and Grant MCJ-004007 from the Offices of Maternal and Child Health, Department of Health and Human Services, Rockville, MD.

PY - 1984

Y1 - 1984

N2 - 3-Hydroxy-3-methylglutaric aciduria was found in a newborn infant whose parents are first cousins. The patient presented at 5 days of life with hyperammonemia, hypoglecemia, and metabolic acidosis. There was no ketonuria. Diagnosis was made by analysis of the pattern of organic acids excreted in the urine. A profound deficiency in activity of 3-hydroxy-3-methylglutaryl-coenzyme A lyase was found in cultured skin fibroblasts. The parents had intermediate levels of enzyme activity.

AB - 3-Hydroxy-3-methylglutaric aciduria was found in a newborn infant whose parents are first cousins. The patient presented at 5 days of life with hyperammonemia, hypoglecemia, and metabolic acidosis. There was no ketonuria. Diagnosis was made by analysis of the pattern of organic acids excreted in the urine. A profound deficiency in activity of 3-hydroxy-3-methylglutaryl-coenzyme A lyase was found in cultured skin fibroblasts. The parents had intermediate levels of enzyme activity.

KW - 3-hydroxy-3-methylglutaric aciduria

KW - 3-hydroxy-3-methylglutaryl-CoA lyase

KW - Hyperammonemia

KW - Hypoglycemia -metabolic acidosis without ketonuria

UR - http://www.scopus.com/inward/record.url?scp=0021336963&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0021336963&partnerID=8YFLogxK

U2 - 10.3109/01677068409107082

DO - 10.3109/01677068409107082

M3 - Article

C2 - 6085636

AN - SCOPUS:0021336963

SN - 0167-7063

VL - 1

SP - 165

EP - 173

JO - Journal of Neurogenetics

JF - Journal of Neurogenetics

IS - 2

ER -

3-hydroxy-3-methylglutaric aciduria

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this