FOLATE TRANSPORT DEFICIENCY

Question 1

What is  FOLATE TRANSPORT DEFICIENCY?

Accepted Answer

rare (20 cases)
autosomal recessive
mutation in the FOLR1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Neurodegeneratives Syndrom durch zerebrale Folattransportstörung

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613068

Question 4

Which enzymes are involved?

Accepted Answer

Folate receptor alpha

Disease	FOLATE TRANSPORT DEFICIENCY
Synonym	NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
OMIM	613068 OMIM = Online Mendelian Inheritance of Men
Orphanet	217382
Protein (UniProt)	Folate receptor alpha
Gene locus	11q13.4
ICD	G31.8
Summary	rare (20 cases) autosomal recessive mutation in the FOLR1 gene
Laboratory findings	5-Methyltetrahydrofolate (5-MTHF) dec (cerebrospinal fluid)
Symptoms	abnormal movement ataxia behavior, aggressive behavior, autism or autistic-like cerebellar atrophy or hypoplasia cerebral atrophy cortical or cerebral atrophy developmental regression EEG abnormalities [-] gait disturbance mental retardation microcephaly (<2 SD for age) MRS, brain, abnormalities myelination, incomplete, hypomyelination onset, infancy seizures sleep disturbances tremor or twitching