Premium
Folate Metabolism in Infantile Type of 5,10 Methlenetetrahydrofolate Reductase Deficiency
Author(s) -
Narisawa Kuniaki
Publication year - 1981
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1981.tb01251.x
Subject(s) - medicine , cerebrospinal fluid , folic acid , reductase , endocrinology , enzyme , biochemistry , chemistry
Summary The lack of 5‐CH 3 ‐H 4 PteGlu was demonstrated in serum, red cells, liver and brain in a 9‐month‐old patient with nearly complete absence of 5, 10‐CH 2 ‐H 4 PteGlu reductase activity. Folates were undetectable in the cerebrospinal fluid and were markedly deficient in brain tissue even after folic acid therapy. Her clinical features were characterized by fits of apnea, generalized convulsions and severe mental retardation, It is assumed that folate deficiency in the growing brain, due to the inability to produce 5‐CH 3 ‐H 4 PteGlu in tissues, is related to the severe brain damage as observed in clinical and histological examinations.