IllnessFolic acid deficiency, cerebral; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for cerebral folic acid deficiency comprising 4 curated genes according to the clinical signs

FP7756

Number of genes

4 Accredited laboratory test

Examined sequence length

4,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
DHFR	564	126060	NM_000791.4	AR
FOLR1	774	136430	NM_016725.3	AR
MTHFR	1971	607093	NM_005957.5	AR
SLC46A1	1297	611672	NM_001242366.3	AR

Informations about the disease

Clinical Comment

Cerebral folate deficiency: low levels of 5-methyltetrahydrofolate in CSF with normal levels in plasma + erythrocytes; symptoms start at 4-6 months, delayed development with deceleration of head growth, hypotonia, ataxia, in 1/3 of children by dyskinesias (choreo-athetosis, hemiballismus), spasticity, speech difficulties, epilepsy

Synonyms

Alias: Cerebral folate deficiency
Alias: FOLR1 deficiency
Alias: Neurodegeneration due to cerebral folate transport deficiency
Folate malabsorption, hereditary (SCL46A1)
Homocystinuria due to MTHFR deficiency (MTHFR)
Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFR)
Methylenetetrahydrofolate reductase deficiency (MTHFR)
Neurodegeneration due to cerebral folate transport deficiency (FOLR1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined