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Summary
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
613068
OMIM = Online Medalian Inheritance of Men
217382
11q13.4
rare
autosomal recessive
symptoms
abnormal movement
ataxia
behavior. aggressive
cerebellar atrophy or hypoplasia
cortical or cerebral atrophy
developmental regression
mental retardation
onset, infancy
seizures
tremor or twitching
laboratory finding
MRS, brain, abnormalities - ---
EEG abnormalities - ---
5-Methyltetrahydrofolate decreasedcerebrospinal fluid
Literature
Atwal PS,et al.Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.Mol Genet Metab115291-942015
Eklioglu BS,et al.Aromatase deficiency in an adolescent girl misdiagnosed as congenital adrenal hyperplasia in infancy and childhood.J Pediatr Endocrinol Metab277593-5942014