Hereditary folate malabsorption

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Classification according to ICD-10
D52.8 Other folic acid deficiency anemias
ICD-10 online (WHO version 2019)
The structural formula of folic acid.
With hereditary folate malabsorption, the brain is no longer adequately supplied with folic acid.

The hereditary folate malabsorption , including congenital folate malabsorption ( lat. Malabsorption = "bad record") is an extremely rare, autosomal - recessive inherited , disease.

Genetics and Etiology

Hereditary folate malabsorption is caused by a defect in the PCFT gene (SLC46A1), which codes for a proton-dependent folate transporter. The affected gene is on chromosome 17 , gene locus q11.2. Due to a mutation in the PCFT gene, the gene product - a folate transporter  - is restricted in its function. The transport of folic acid, which is so important for the brain, via the endothelia of the blood-brain barrier is considerably restricted and the brain is undersupplied with folic acid.

In the cases known to date, the parents of the children concerned are related by blood ( e.g. cross-cousin marriage ), which suggests an autosomal recessive inheritance .

The disease is extremely rare. To date, around 20 cases have been described worldwide, most of them in female patients.

Hereditary folate malabsorption was first described in 1965.

Symptoms and Therapy

The symptoms of hereditary folate malabsorption are mainly epileptic seizures and mental retardation and occur in early childhood. If left untreated, the disease is fatal. If supplementation is taken too late , the neurological damage cannot be reversed.

If the disease is recognized in good time, the symptoms can be largely suppressed by parenteral administration of folates or high-dose oral administration of folates. A cure is currently not possible.

literature

  • R. Zhao et al. a .: The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. In: Blood , 110, 2007, pp. 1147-1152. PMID 17446347

Web links

Individual evidence

  1. ↑ a b R. Zhao u. a .: The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. In: Blood , 110, 2007, pp. 1147-1152. PMID 17446347
  2. ↑ SLC46A1 solute carrier family 46 (folate transporter), member 1. ncbi.nlm.nih.gov; Retrieved March 28, 2009.
  3. ^ PC Su: Congenital folate deficiency. In: NEJM , 294, 1976, p. 1128. PMID 176588 .
  4. ↑ J. Urbach u. a .: Congenital isolated folic acid malabsorption. In: Arch Dis Child , 62, 1987, pp. 78-80. PMID 3813642 .
  5. ↑ P. Lanzkowsky u. a .: Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. In: Blood , 34, 1969, pp. 452-465. PMID 4980683 .
  6. ↑ PJ Santiago-Borrero et al. a .: Congenital isolated defect of folic acid absorption. In: J Pediat , 82, 1973, pp. 450-455. PMID 4540608 .
  7. ↑ DS Rosenblatt, WA Fenton: Inherited disorders of folate and cobalamin transport and metabolism. In: CR Scriver et al. a. (Editors): The Metabolic & Molecular Bases of Inherited Disease . Volume III. McGraw-Hill, 2001, ISBN 0-07-913035-6 , pp. 3902-3903.
  8. ↑ AL Luhby et al. a .: A new inborn error of metabolism: folic acid responsive megaloblastic anemia, ataxia, mental retardation, and convulsions. In: J Pediat , 67, 1965, p. 1052.
  9. ↑ L. Corbeel et al. a .: Congenital folate malabsorption. In: Eur J Pediatr , 143, 1985, pp. 284-290. PMID 3987728
  10. ↑ S. Jebnoun et al. a .: A family study of congenital malabsorption of folate. In: J Inherit Metab Dis , 24, 2001, pp. 749-750. PMID 11804211 .
  11. ↑ J. Geller et al. a .: Hereditary folate malabsorption: family report and review of the literature. In: Medicine (Baltimore) , 81, 2002, pp. 51-68. PMID 11807405
  12. ↑ M. Poncz, A. Cohen: Long-term treatment of congenital folate malabsorption. In: J Pediatr , 129, 1996, p. 948. PMID 8969750 .