Pyridoxine Responsive Seizures: Beyond Aldehyde Dehydrogenase 7A1
نویسندگان
چکیده
منابع مشابه
Structural Basis of Substrate Recognition by Aldehyde Dehydrogenase 7A1
Aldehyde dehydrogenase 7A1 (ALDH7A1) is part of lysine catabolism and catalyzes the NAD(+)-dependent oxidation of α-aminoadipate semialdehyde to α-aminoadipate. Herein, we describe a structural study of human ALDH7A1 focused on substrate recognition. Five crystal structures and small-angle X-ray scattering data are reported, including the first crystal structure of any ALDH7 family member compl...
متن کاملEpidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK.
OBJECTIVE To study the epidemiology of pyridoxine dependent seizures and other forms of pyridoxine responsive seizures. DESIGN Monthly notifications to the British Paediatric Surveillance Unit over two years. Questionnaire follow up. SETTING UK and the Republic of Ireland. PATIENTS Children aged 15 years or younger whose seizures respond to pyridoxine. INTERVENTIONS None. MAIN OUTCOME...
متن کاملImpact of disease-Linked mutations targeting the oligomerization interfaces of aldehyde dehydrogenase 7A1.
Aldehyde dehydrogenase 7A1 (ALDH7A1) is involved in lysine catabolism, catalyzing the oxidation of α-aminoadipate semialdehyde to α-aminoadipate. Certain mutations in the ALDH7A1 gene, which are presumed to reduce catalytic activity, cause an autosomal recessive seizure disorder known as pyridoxine-dependent epilepsy (PDE). Although the genetic association between ALDH7A1 and PDE is well establ...
متن کاملImportance of the C-Terminus of Aldehyde Dehydrogenase 7A1 for Oligomerization and Catalytic Activity.
Aldehyde dehydrogenase 7A1 (ALDH7A1) catalyzes the terminal step of lysine catabolism, the NAD+-dependent oxidation of α-aminoadipate semialdehyde to α-aminoadipate. Structures of ALDH7A1 reveal the C-terminus is a gate that opens and closes in response to the binding of α-aminoadipate. In the closed state, the C-terminus of one protomer stabilizes the active site of the neighboring protomer in...
متن کامل[Pyridoxine dependent seizures].
Pyridoxine dependent seizures is a rare autosomal recessive disorder. Its manifestations are intractable epilepsy leading to death in status epilepticus. Treatment with pyridoxine prevents the seizures and normalizes the EEG. Early diagnosis is important for the intellectual outcome. In Denmark, the disease has occurred in a child of healthy Tamil immigrants, who are first cousins. The child's ...
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ژورنال
عنوان ژورنال: Journal of Neurosciences in Rural Practice
سال: 2019
ISSN: 0976-3147,0976-3155
DOI: 10.1055/s-0039-1697775