NDLI: Leukodystrophy and CSF Purine Abnormalities Associated with Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency

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Leukodystrophy and CSF Purine Abnormalities Associated with Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency

Content Provider	Springer Nature Link
Author	de Kremer, Raquel Dodelson Latini, Alexandra Suormala, Terttu Baumgartner, E. Regula Laróvere, Laura Civallero, Gabriel Guelbert, rberto Paschini Capra, Ana Depetris Boldini, Catalina Mayor, Carlos Quiroga
Copyright Year	2002
Abstract	We report the first case of isolated biotin resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency in Argentina. The diagnosis was established at 14 months of age by urinary organic-acid analysis and confirmed by enzyme assay in fibroblasts. The patient suffered from severe psychomotor retardation, hypotonia, areflexia, and failure to thrive, and died unexpectedly at 3 years 4 months of life. Brain MRI at 14 months showed signals of the white matter on cerebral T$_{2}$-weighted, which were indicative of confluent and multiple foci of leukodystrophy, a pattern not previously described in this entity. In addition, high levels of oxypurines were detected in cerebrospinal fluid. This might be related to energetic consequences of the enzyme deficiency in the brain. This case extends the phenotype of isolated MCC deficiency in infancy and suggests this entity should be considered to be one of the possible causes of “metabolic leukodystrophies.”
Starting Page	13
Ending Page	18
Page Count	6
File Format	PDF
ISSN	08857490
Journal	Metabolic Brain Disease
Volume Number	17
Issue Number	1
e-ISSN	15737365
Language	English
Publisher	Kluwer Academic Publishers-Plenum Publishers
Publisher Date	2002-01-01
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Neurosciences Neurology Oncology Biochemistry
Content Type	Text
Resource Type	Article
Subject	Biochemistry Neurology (clinical) Cellular and Molecular Neuroscience

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