[Methylenetetrahydrofolate reductase deficiency-induced schizophrenia in a school-age boy].
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. It is known that MTHFR deficiency may result in hyperhomocysteinemia, but MTHFR deficiency-induced schizophrenia has been rarely reported. Here we present the clinical course, biochemical and genetic characteristics of schizophrenia resulted from MTHFR deficiency in a school-age boy. He was 13 years old. He was admitted with a two-year history of fear, auditory hallucination, learning difficulty, sleeping problems, irascibility, drowsing and giggling. At admission, he had significantly elevated plasma and urine levels of total homocysteine, significantly decreased levels of folate in serum and cerebrospinal fluid, and a normal blood concentration of methionine. Further DNA sequencing analysis showed 665C>T homozygous mutations in the MTHFR gene. The patient was diagnosed with MTHFR deficiency-associated schizophrenia and treatment with calcium folinate, vitamin B12, vitamin B6, and betaine was initiated. After the treatment for 1 week, his plasma and urine levels of homocysteine were decreased to a normal range and the clinical symptoms were significantly improved. After 3 months of treatment, the patient returned to school. He is now living with normal school life. In summary, children with late-onset MTHFR deficiency and secondary cerebral folate deficiency may lead to schizophrenia. This rare condition can be early diagnosed through analyses of blood and urine total homocysteine, amino acids in blood and folate in blood and cerebral fluid and successfully treated with folinic acid, vitamin B6, vitamin B12 and betaine.
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. organic.acid@126.com.
Qiao
Q
Wang
Jing
J
Liu
Yu-Peng
YP
Liu
Xi-Yuan
XY
Li
Yan-Yan
YY
Ma
Tong-Fei
TF
Wu
Yuan
Y
Ding
Jin-Qing
JQ
Song
Yu-Jie
YJ
Wang
Yan-Ling
YL
Yang
D000293:Adolescent; D001483:Base Sequence; D006712:Homocystinuria / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000172:deficiency*; D008969:Molecular Sequence Data; D009128:Muscle Spasticity / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D011618:Psychotic Disorders / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D012559:Schizophrenia / Q000209:etiology*
D042965:Methylenetetrahydrofolate Reductase (NADPH2)