Metabolic cause of Reye-like syndrome.
The most frequent metabolic cause of Reye-like syndrome is medium chain acyl-CoA dehydrogenase (MCAD) deficiency. The authors describe a gypsy boy who was repeatedly hospitalised due to symptoms of Reye-like syndrome (serious hypoglycemia, loss of consciousness, seizures, increased values of aminotransferases, decreased values of free carnitine). The diagnosis of MCAD deficiency was established by analysis of plasmatic acylcarnitines by use of tandem mass spectrometry. DNA analysis proved the most common K329E (G985) mutation in gene for MCAD deficiency in homozygous state. The authors have emphasised the advantage of tandem mass spectrometry in the diagnosis of disorders of fatty acid beta-oxidation. This highly sophisticated method can detect most of these disorders from dry blood spots disregarding the symptoms and type of mutation.
Bzduch
V
V
1st Department of Pediatry, Department of Clinical Biochemistry, Hospital for Children, Limbova 1, SK-833 40 Bratislava, Slovakia. bzduch@inmail.sk
Behulova
D
D
Lehnert
W
W
Fabriciova
K
K
Kozak
L
L
Salingova
A
A
Hrabincova
E
E
Benedekova
M
M
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male; D012202:Reye Syndrome / Q000201:enzymology / Q000209:etiology*
D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase