Abstract | INTRODUCTION: PATIENTS: We report on three children (two girls, one boy), aged 3.5-7.5 years, who presented with severe megaloblastic anemia, micro-cephalus and partly nystagmus (2/3) due to a rare inborn error of remethylation. RESULTS:
Methionine synthase reductase deficiency, cblE type of homocystinuria (OMIM 236270), is a rare autosomal recessive inherited disorder described only in 14 patients worldwide. Metabolic hallmarks of the disease are hyperhomocysteinemia (median 98 micromol/l, normal range <15) without methylmalonic aciduria but often hypomethioninemia. The patients described here were diagnosed at ages of 2-18 months. The importance of an early recognition of this possibly underdiagnosed congenital disease is stressed. Treatment consisted of the application of hydroxocobalamine (1-2 mg weekly, i.m.), betaine (100-200 mg/kg daily, p.o.), folate (5-10 mg daily, p.o.) and intensive physical therapy. CONCLUSION:
|
Authors | P Müller, G Horneff, J B Hennermann |
Journal | Klinische Padiatrie
(Klin Padiatr)
2007 Nov-Dec
Vol. 219
Issue 6
Pg. 361-7
ISSN: 0300-8630 [Print] Germany |
Vernacular Title | Mikrozephalus und megaloblastäre Anämie als Leitsymptome einer seltenen angeborenen Störung des intrazellulären Kobalamin-Processings--3 Kasuistiken. |
PMID | 18050048
(Publication Type: Case Reports, English Abstract, Journal Article)
|
Chemical References |
- Homocysteine
- methionine synthase reductase
- Ferredoxin-NADP Reductase
- Hydroxocobalamin
|
Topics |
- Anemia, Megaloblastic
(complications)
- Child
- Child, Preschool
- Failure to Thrive
- Female
- Ferredoxin-NADP Reductase
(deficiency)
- Homocysteine
(metabolism)
- Homocystinuria
(complications)
- Humans
- Hydroxocobalamin
(administration & dosage, therapeutic use)
- Injections, Intramuscular
- Intellectual Disability
(etiology)
- Male
- Microcephaly
(complications)
- Time Factors
- Vitamin B 12 Deficiency
(complications, drug therapy)
|