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Summary
FOLATE TRANSPORT DEFICIENCY
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, autism or autistic-like
behavior. aggressive
cerebellar atrophy or hypoplasia
cerebral atrophy
cortical or cerebral atrophy
developmental regression
gait disturbance
mental retardation
microcephaly (<2 SD for age)
myelination, incomplete, hypomyelination
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 childhoodJ Pediatr Endocrinol Metab277593-5942014