hydroxocobalamin and Intellectual-Disability

Topics: Adolescent; Adult; Child; Child, Preschool; Chromosome Fragility; Clinical Trials as Topic; Deanol; Dose-Response Relationship, Drug; Female; Folic Acid; Humans; Hydroxocobalamin; Intellectual Disability; Leucovorin; Male; Mental Disorders

Topics: Adolescent; Biopsy; Complement System Proteins; Female; Hematuria; Humans; Hydroxocobalamin; Hypertension; Intellectual Disability; Kidney; Laser-Doppler Flowmetry; Metabolism, Inborn Errors; Proteinuria; Seizures; Ultrasonography

A case of hereditary transcobalamin II deficiency with neurological involvement is described. The patient presented in early infancy with megaloblastic anaemia and was treated with folinic acid from 6 weeks of age. The diagnosis of transcobalamin II deficiency was not made until he was 2 years old when he showed severely retarded intellectual development, ataxia and pyramidal deficit in the limbs. Following treatment with hydroxocobalamin, his condition has slowly improved but he has remained with a severe neurological deficit. The consequences of vitamin B12 deficiency on neurological development in infancy are discussed.

Topics: Age Factors; Anemia, Macrocytic; Anemia, Megaloblastic; Blood Proteins; Child; Genes, Recessive; Humans; Hydroxocobalamin; Intellectual Disability; Male; Nervous System Diseases; Transcobalamins; Vitamin B 12 Deficiency

Topics: Adolescent; Child; Female; Glutamine; Humans; Hydroxocobalamin; Intellectual Disability; Lysine