3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis.
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.
Darin
Niklas
N
Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden. niklas.darin@vgregion.se
Andersen
Oluf
O
Wiklund
Lars-Martin
LM
Holmgren
Daniel
D
Holme
Elisabeth
E
D000276:Adjuvants, Immunologic / Q000627:therapeutic use; D000293:Adolescent; D000700:Analgesics / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D019735:Carbon-Carbon Ligases / Q000172:deficiency*; D005260:Female; D006801:Humans; D000068556:Interferon beta-1a; D016899:Interferon-beta / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000473:pathology; D008942:Mitoxantrone / Q000627:therapeutic use; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000150:complications* / Q000188:drug therapy / Q000473:pathology; D013256:Steroids / Q000627:therapeutic use
D000276:Adjuvants, Immunologic; D000700:Analgesics; D013256:Steroids; D016899:Interferon-beta; D008942:Mitoxantrone; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D000068556:Interferon beta-1a