Methylenetetrahydrofolate reductase deficiency-induced schizophrenia in a school-age boy

WANG Qiao; LIU Jing; LIU Yu-Peng; LI Xi-Yuan; MA Yan-Yan; WU Tong-Fei; DING Yuan; SONG Jin-Qing; WANG Yu-Jie; YANG Yan-Ling

doi:10.7499/j.issn.1008-8830.2014.01.014

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Chinese Journal of Contemporary Pediatrics ›› 2014, Vol. 16 ›› Issue (1) : 62-66. DOI: 10.7499/j.issn.1008-8830.2014.01.014

COMPLICATED CASE STUDY

Methylenetetrahydrofolate reductase deficiency-induced schizophrenia in a school-age boy

WANG Qiao¹, LIU Jing², LIU Yu-Peng¹, LI Xi-Yuan¹, MA Yan-Yan¹, WU Tong-Fei¹, DING Yuan¹, SONG Jin-Qing¹, WANG Yu-Jie¹, YANG Yan-Ling¹

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Abstract

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.

Key words

Schizophrenia / Methylenetetrahydrofolate reductase / Hyperhomocysteinemia / Homocysteine / Cerebral folate deficiency / Child

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WANG Qiao, LIU Jing, LIU Yu-Peng, LI Xi-Yuan, MA Yan-Yan, WU Tong-Fei, DING Yuan, SONG Jin-Qing, WANG Yu-Jie, YANG Yan-Ling. Methylenetetrahydrofolate reductase deficiency-induced schizophrenia in a school-age boy[J]. Chinese Journal of Contemporary Pediatrics. 2014, 16(1): 62-66 https://doi.org/10.7499/j.issn.1008-8830.2014.01.014

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