Open AccessDelayed diagnosis of cobalamin E defect in an adolescent patient
Author(s) -
Merve Koç Yekedüz,
Elif İnce,
Talia İleri,
Mehmet Ertem,
Fatma Tuba Eminoğlu
Publication year - 2020
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_132_19
Subject(s) - cobalamin , medicine , mtrr , homocysteine , megaloblastic anemia , betaine , methylmalonic aciduria , hyperhomocysteinemia , vitamin b12 , methylmalonic acid , exon , carnitine , homocystinuria , atrophy , white matter , endocrinology , magnetic resonance imaging , methionine , methylenetetrahydrofolate reductase , biochemistry , allele , gene , amino acid , radiology , biology
Cobalamin and its metabolites play a critical role in deoxyribonucleic acid synthesis. Disorders of cobalamin metabolism are rare and related with neurological and hematological problems. We report an adolescent patient with cobalamin E (CblE) defect presenting with megaloblastic anemia, mental retardation, cerebral atrophy, cortical visual impairment, white matter changes on brain magnetic resonance imaging, and hyperhomocysteinemia. Homozygous mutation at the c.245C>T in exon 3 of the MTRR gene was identified, which had been found to be related to CblE defect. He was treated with betaine, folic acid, vitamin B6, riboflavin, hydroxycobalamin (OH-B 12 ), and carnitine. During treatment, homocysteine levels decreased over time.