Glutaric aciduria Type II

Lawrence Sweetman; William L. Nyhan; Doris A. Trauner; T. Allen Merritt; Meharban Singh

doi:10.1016/S0022-3476(80)80629-9

Glutaric aciduria Type II

Lawrence Sweetman, William L. Nyhan, Doris A. Trauner, T. Allen Merritt, Meharban Singh

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

76 Scopus citations

Abstract

Two infants have been studied with glutaric aciduria Type II. The clinical presentation was of an overwehlming illness very early in life; both infants died in the neonatal period. One had dysmorphic features. An acrid odor may be a clue to the diagnosis. Neonatal acidosis, hypoglycemia, and hyperammonemia are characteristics. Organic acid analysis revealed massive lactic aciduria and glutaric aciduria. A variety of other dicarboxylic acids and hydroxy acids and amino acids were found in elevated amounts in body fluids, along with elevated concentrations of butyric, isobutyric, 2-methylbutyric, and isovaleric acids. The pattern of metabolites accumulated is consistent with deficient activity of a number of acyl-CoA dehydrogenases.

Original language	English (US)
Pages (from-to)	1020-1026
Number of pages	7
Journal	The Journal of pediatrics
Volume	96
Issue number	6
DOIs	https://doi.org/10.1016/S0022-3476(80)80629-9
State	Published - Jun 1980
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(80)80629-9

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@article{297044933fa94603b3c0fe7b1e3f633a,

title = "Glutaric aciduria Type II",

abstract = "Two infants have been studied with glutaric aciduria Type II. The clinical presentation was of an overwehlming illness very early in life; both infants died in the neonatal period. One had dysmorphic features. An acrid odor may be a clue to the diagnosis. Neonatal acidosis, hypoglycemia, and hyperammonemia are characteristics. Organic acid analysis revealed massive lactic aciduria and glutaric aciduria. A variety of other dicarboxylic acids and hydroxy acids and amino acids were found in elevated amounts in body fluids, along with elevated concentrations of butyric, isobutyric, 2-methylbutyric, and isovaleric acids. The pattern of metabolites accumulated is consistent with deficient activity of a number of acyl-CoA dehydrogenases.",

author = "Lawrence Sweetman and Nyhan, {William L.} and Trauner, {Doris A.} and Merritt, {T. Allen} and Meharban Singh",

note = "Funding Information: From the Departments of Pediatrics and Neurosciences, University of California, San Diego, and the A II India Institute of Medical Services. Aided by United States Public Health Service Grants No. HDO4608 from the National Institute of Child Health and Human Development, GM 17702 from th~ National Institute of General Medical Sciences and RR O0708 from the Biotechnology Resource Branch, National Institutes of Health. *Reprint address: Department of Pediatrics, M-O09, University of California, San Diego, La Jolla, CA 92093.",

year = "1980",

month = jun,

doi = "10.1016/S0022-3476(80)80629-9",

language = "English (US)",

volume = "96",

pages = "1020--1026",

journal = "The Journal of pediatrics",

issn = "0022-3476",

publisher = "Mosby Inc.",

number = "6",

}

TY - JOUR

T1 - Glutaric aciduria Type II

AU - Sweetman, Lawrence

AU - Nyhan, William L.

AU - Trauner, Doris A.

AU - Merritt, T. Allen

AU - Singh, Meharban

N1 - Funding Information: From the Departments of Pediatrics and Neurosciences, University of California, San Diego, and the A II India Institute of Medical Services. Aided by United States Public Health Service Grants No. HDO4608 from the National Institute of Child Health and Human Development, GM 17702 from th~ National Institute of General Medical Sciences and RR O0708 from the Biotechnology Resource Branch, National Institutes of Health. *Reprint address: Department of Pediatrics, M-O09, University of California, San Diego, La Jolla, CA 92093.

PY - 1980/6

Y1 - 1980/6

N2 - Two infants have been studied with glutaric aciduria Type II. The clinical presentation was of an overwehlming illness very early in life; both infants died in the neonatal period. One had dysmorphic features. An acrid odor may be a clue to the diagnosis. Neonatal acidosis, hypoglycemia, and hyperammonemia are characteristics. Organic acid analysis revealed massive lactic aciduria and glutaric aciduria. A variety of other dicarboxylic acids and hydroxy acids and amino acids were found in elevated amounts in body fluids, along with elevated concentrations of butyric, isobutyric, 2-methylbutyric, and isovaleric acids. The pattern of metabolites accumulated is consistent with deficient activity of a number of acyl-CoA dehydrogenases.

AB - Two infants have been studied with glutaric aciduria Type II. The clinical presentation was of an overwehlming illness very early in life; both infants died in the neonatal period. One had dysmorphic features. An acrid odor may be a clue to the diagnosis. Neonatal acidosis, hypoglycemia, and hyperammonemia are characteristics. Organic acid analysis revealed massive lactic aciduria and glutaric aciduria. A variety of other dicarboxylic acids and hydroxy acids and amino acids were found in elevated amounts in body fluids, along with elevated concentrations of butyric, isobutyric, 2-methylbutyric, and isovaleric acids. The pattern of metabolites accumulated is consistent with deficient activity of a number of acyl-CoA dehydrogenases.

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JO - The Journal of pediatrics

JF - The Journal of pediatrics

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ER -

Glutaric aciduria Type II

Abstract

ASJC Scopus subject areas

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