ISSN:
1432-1076
Schlagwort(e):
Key words Organic aciduria
;
Branched-chain amino acids
;
Acute infantile hemiplegia
;
3-methylcrotonyl-CoA carboxylase deficiency
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis during a febrile episode at the age of 16 months. A brain scan was initially normal and showed hemilateral focal edema and gliosis at later stages. 3-Methylcrotonyl-CoA carboxylase deficiency was suggested by elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, and confirmed by enzyme assays. The patient was treated with protein restriction and carnitine and remained stable during the following 5 years. Hemiparesis and some developmental delay persisted. Conclusion In acute focal brain disease, metabolic disorders must be considered. 3-Methylcrotonyl-CoA carboxylase deficiency adds to the list of possible causes of “metabolic stroke”.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/s004310051189
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