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Folinic acid
DHPR deficiency
UMP synthase deficiency (hereditary orotic aciduria)
Methylene synthase deficiency
Methionine synthase deficiency
Hereditary folate malabsorption
Cerebral folate transporter defect
-Folinic Acid Responsive Seizure
-Remethylation defectHereditary folate malabsorption : Adult: 150-200 mg/day PO once daily.
Infants and children: 50 mg or 10-15 mg/kg PO once daily (68, 69). Or 1.5-7.5 mg IM once daily(69-71). However, The dose should be adjusted in the individual to achieve a normal CSF folate level that is normal for age (72).
Other indications: 5-15mg/day PO or IV BID (8, 73).5 mg, 10 mg, 15 mg, 25 mg tablets
10mg/mL injection solution
50 mg, 100 mg, 200 mg, 350 mg powder for reconstitution (injection)
PO or IV or IM
Allergy
4
8. Centre for Evidence-Based Medicine. Secondary Centre for Evidence-Based Medicine 2009. http://www.cebm.net/index.aspx?o=1025.
69. Ponzone A, Spada M, Ferraris S, Dianzani I, de Sanctis L. Dihydropteridine reductase deficiency in man: from biology to treatment. Medicinal research reviews 2004;24(2):127-50 doi: 10.1002/med.10055[published Online First: Epub Date]|.
70. Charles Z, Pugh E, Barnett D. Ezetimibe for the treatment of primary (heterozygous-familial and non-familial) hypercholesterolaemia: NICE technology appraisal guidance. Heart 2008;94(5):642-3 doi: 10.1136/hrt.2007.138263[published Online First: Epub Date]|.
71. Hamilton-Craig I, Kostner K, Colquhoun D, Woodhouse S. Combination therapy of statin and ezetimibe for the treatment of familial hypercholesterolemia. Vascular health and risk management 2010;6:1023-37 doi: 10.2147/VHRM.S13496[published Online First: Epub Date]|.
72. Ogier de Baulny H, Gerard M, Saudubray JM, Zittoun J. Remethylation defects: guidelines for clinical diagnosis and treatment. Eur J Pediatr 1998;157 Suppl 2:S77-83
73. Schiff M, Benoist JF, Tilea B, Royer N, Giraudier S, Ogier de Baulny H. Isolated remethylation disorders: do our treatments benefit patients? J Inherit Metab Dis 2011;34(1):137-45 doi: 10.1007/s10545-010-9120-8[published Online First: Epub Date]|.
