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3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis.

Journal article
Authors Niklas Darin
Oluf Andersen
Lars-Martin Wiklund
Daniel Holmgren
Elisabeth Holme
Published in Pediatric neurology
Volume 36
Issue 2
Pages 132-4
ISSN 0887-8994
Publication year 2007
Published at Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
Institute of Clinical Sciences, Department of Pediatrics
Institute of Clinical Sciences
Pages 132-4
Language en
Keywords Adjuvants, Immunologic, therapeutic use, Adolescent, Analgesics, therapeutic use, Brain, pathology, Carbon-Carbon Ligases, deficiency, Female, Humans, Interferon-beta, therapeutic use, Magnetic Resonance Imaging, Metabolism, Inborn Errors, complications, pathology, Mitoxantrone, therapeutic use, Multiple Sclerosis, Relapsing-Remitting, complications, drug therapy, pathology, Steroids, therapeutic use
Subject categories Medical and Health Sciences


This report describes a female with isolated 3-methylcrotonyl-CoA carboxylase deficiency. She had a mild Reye-like episode, loss of scalp hair, psychomotor retardation, and an attention-deficit hyperactivity disorder. The diagnosis was made at 13 years of age when she developed relapsing remitting multiple sclerosis with a malignant course. Treatment with steroids had initially a good therapeutic effect on the relapses. The response to interferon beta-1a treatment was poor. On mitoxantrone treatment there was a considerable neurologic recovery.

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