TY - JOUR
T1 - Severe methylenetetrahydrofolate reductase (MTHFR) deficiency
T2 - A case report of nonclassical homocystinuria
AU - Bishop, Lisa
AU - Kanoff, Richard
AU - Charnas, Lawrence
AU - Krenzel, Charles
AU - Berry, Susan A
AU - Schimmenti, Lisa A
N1 - Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2008/7
Y1 - 2008/7
N2 - Severe methylenetetrahydrofolate reductase deficiency is an autosomal recessive metabolic disorder of folate metabolism causing elevated plasma homocysteine levels and homocystinuria (MIM 236250). A developmentally delayed 10-year-old girl presented with symptoms of progressive ataxia, dysarthria, tremor, mental status changes, and white-matter changes on magnetic resonance imaging. These changes occurred during a 3- to 4-month time period, with an acceleration of symptoms during 2 to 3 weeks. The patient was found to have extremely high serum homocysteine and low-normal serum methionine. She received treatment with vitamin B12, folate, betaine, multivitamins, and aspirin, with subsequent improvement of her symptoms and reduction in her serum homocysteine level. This case emphasizes the need to include homocystinuria in the differential diagnosis of children with acute/ subacute neurological changes, particularly in the context of developmental delay.
AB - Severe methylenetetrahydrofolate reductase deficiency is an autosomal recessive metabolic disorder of folate metabolism causing elevated plasma homocysteine levels and homocystinuria (MIM 236250). A developmentally delayed 10-year-old girl presented with symptoms of progressive ataxia, dysarthria, tremor, mental status changes, and white-matter changes on magnetic resonance imaging. These changes occurred during a 3- to 4-month time period, with an acceleration of symptoms during 2 to 3 weeks. The patient was found to have extremely high serum homocysteine and low-normal serum methionine. She received treatment with vitamin B12, folate, betaine, multivitamins, and aspirin, with subsequent improvement of her symptoms and reduction in her serum homocysteine level. This case emphasizes the need to include homocystinuria in the differential diagnosis of children with acute/ subacute neurological changes, particularly in the context of developmental delay.
KW - Homocystinuria
KW - Methylenetetrahydrofolate reductase
KW - Newborn metabolic screen
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U2 - 10.1177/0883073808315410
DO - 10.1177/0883073808315410
M3 - Article
C2 - 18658082
AN - SCOPUS:47349095404
SN - 0883-0738
VL - 23
SP - 823
EP - 828
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 7
ER -