Abstract
An abnormality in the pyridoxal-5'-phosphate (PLP) dependent enzyme, glutamic acid decarboxylase (GAD), which synthesises γ-aminobutyric acid (GABA), may underlie the epileptic syndrome of pyridoxine-dependent seizures. GABA synthesis by skin fibroblasts from an infant with pyridoxine-dependent seizures, and from five controls, was measured. PLP independent GAD activity was similar in control and patient fibroblasts, whereas the patient's PLP dependent GAD activity was reduced compared with controls. These findings support the hypothesis for the expression of this familial disease.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1133-1134 |
| Number of pages | 2 |
| Journal | The Lancet |
| Volume | 343 |
| Issue number | 8906 |
| DOIs | |
| State | Published - May 7 1994 |
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ASJC Scopus subject areas
- Medicine(all)
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Reduced GABA synthesis in pyridoxine-dependent seizures. / Gospe, S. M.; Olin, K. L.; Keen, Carl L.
In: The Lancet, Vol. 343, No. 8906, 07.05.1994, p. 1133-1134.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Reduced GABA synthesis in pyridoxine-dependent seizures
AU - Gospe, S. M.
AU - Olin, K. L.
AU - Keen, Carl L
PY - 1994/5/7
Y1 - 1994/5/7
N2 - An abnormality in the pyridoxal-5'-phosphate (PLP) dependent enzyme, glutamic acid decarboxylase (GAD), which synthesises γ-aminobutyric acid (GABA), may underlie the epileptic syndrome of pyridoxine-dependent seizures. GABA synthesis by skin fibroblasts from an infant with pyridoxine-dependent seizures, and from five controls, was measured. PLP independent GAD activity was similar in control and patient fibroblasts, whereas the patient's PLP dependent GAD activity was reduced compared with controls. These findings support the hypothesis for the expression of this familial disease.
AB - An abnormality in the pyridoxal-5'-phosphate (PLP) dependent enzyme, glutamic acid decarboxylase (GAD), which synthesises γ-aminobutyric acid (GABA), may underlie the epileptic syndrome of pyridoxine-dependent seizures. GABA synthesis by skin fibroblasts from an infant with pyridoxine-dependent seizures, and from five controls, was measured. PLP independent GAD activity was similar in control and patient fibroblasts, whereas the patient's PLP dependent GAD activity was reduced compared with controls. These findings support the hypothesis for the expression of this familial disease.
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UR - http://www.scopus.com/inward/citedby.url?scp=0028349033&partnerID=8YFLogxK
U2 - 10.1016/S0140-6736(94)90236-4
DO - 10.1016/S0140-6736(94)90236-4
M3 - Article
C2 - 7910233
AN - SCOPUS:0028349033
VL - 343
SP - 1133
EP - 1134
JO - The Lancet
JF - The Lancet
SN - 0140-6736
IS - 8906
ER -