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What (who) is 5,10-methenyltetrahydrofolate synthetase deficiency - definition
5,10-methenyltetrahydrofolate synthetase deficiency
DISEASE
MTHFS deficiency
5,10-Methenyltetrahydrofolate synthetase deficiency (MTHFS deficiency) is a rare neurodevelopmental disorder caused by mutations affecting the MTHFS gene, which encodes the enzyme 5,10-Methenyltetrahydrofolate synthetase.
Methenyltetrahydrofolate cyclohydrolase
CLASS OF ENZYMES
EC 3.5.4.9; 5,10-methenyltetrahydrofolate 5-hydrolase (decyclizing)
In enzymology, a methenyltetrahydrofolate cyclohydrolase () is an enzyme that catalyzes the chemical reaction
Glutathione synthetase deficiency
HUMAN DISEASE
Deficiency of glutathione synthase; Deficiency of glutathione synthetase; 5-oxoprolinemia; 5-oxoprolinuria; Pyroglutamic acidemia; Pyroglutamic aciduria
Glutathione synthetase deficiency (GSD) is a rare autosomal recessive metabolic disorder that prevents the production of glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production.
