Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: Potential for clinical misdiagnosis based on urinary organic acid profiling

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Bibliographic Details
Published inThe Journal of pediatrics Vol. 114; no. 4; pp. 607 - 610
Main Authors Gibson, K.M., Goodman, S.I., Frerman, F.E., Glasgow, A.M.
Format Journal Article
LanguageEnglish
Published New York, NY Mosby, Inc 01.04.1989
Elsevier
Subjects
Aldehyde Oxidoreductases - deficiency
Biological and medical sciences
Child
Child, Preschool
Dicarboxylic Acids - urine
Errors of metabolism
Female
Humans
Hydroxybutyrates - urine
Infant
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Metabolic diseases
Metabolism, Inborn Errors - diagnosis
Sodium Oxybate - urine
Succinate-Semialdehyde Dehydrogenase
Human
Urine
Biochemical analysis
Congenital
Deficiency
Aciduria
Lipids
Metabolic diseases
Infant
Enzymopathy
Case study
Dicarboxylic acid
Diagnosis
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Bibliography:ObjectType-Case Study-3
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-2
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(89)80706-1