Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.
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. 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".
Steen
C
C
University Children's Hospital, Department of Neuropaediatrics II, Berlin, Germany.
Baumgartner
E R
ER
Duran
M
M
Lehnert
W
W
Suormala
T
T
Fingerhut
R
R
Stehn
M
M
Kohlschütter
A
A
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000178:diet therapy; D019735:Carbon-Carbon Ligases / Q000172:deficiency*; D002331:Carnitine / Q000008:administration & dosage; D018753:Diet, Protein-Restricted; D005183:Failure to Thrive / Q000378:metabolism; D005260:Female; D005911:Gliosis / Q000209:etiology; D006429:Hemiplegia / Q000209:etiology*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D007930:Leucine / Q000008:administration & dosage / Q000378:metabolism*; D012640:Seizures / Q000209:etiology
D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D007930:Leucine; D002331:Carnitine