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Summary
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (HMAE)
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE, MTRR
236270
OMIM = Online Medalian Inheritance of Men
2169
5p15.31
  • betaine
  • folic acid
  • vitamin B12 (hydroxycobalamin)
very rare
autosomal recessive
symptoms
Amino acids, plasma
Amino acids, urine
anemia
ataxia
cortical or cerebral atrophy
early death
failure to thrive
feeding difficulties, poor feeding
headache (severe, recurrent or occipital, migraine)
hypotonia
infections (severe or recurrent)
lethargy, drowsiness, malaise or sleep disorder
mental retardation
microcephaly
neurological deterioration
nystagmus
onset, childhood
onset, infancy
retinopathy
seizures
vomiting
laboratory finding
Hemoglobine8.0012.0012.0020.00g/dlblood
Homocystine0.000.003.008.00increasedurinenewborn
Homocystine44.00169.00 5.00-Ámol/lplasma
Methionine 10.0030.00decreasedplasma
EEG abnormalities -
Methylmalonic acid0.000.00 normalurineno data
Literature
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