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Summary
ADENOSINE KINASE DEFICIENCY
Hypermethionia due to adenosine kinase deficiency
614300
OMIM = Online Medalian Inheritance of Men
289290
10q22.2
rare
autosomal recessive
symptoms
cardiac involvement, cardiac defects
cholestasis
developmental delay
failure to thrive
hearing defect, deafness
hyperinsulinism
hypertelorism
hypoglycemia
hypotonia
liver involvement or dysfunction
macrocephaly (large calvaria, >2 SD for age)
muscle weakness
onset, infancy
onset, neonatal
seizures
laboratory finding
S-Adenosylmethionine0.000.00 increasedplasma
Adenosine0.000.00 increasedplasma
L-Methionine0.000.00 increasedplasma
S-Adenosylhomocysteine0.000.00 increasedplasma
Homocysteine0.000.00 normal-increasedplasma
Literature
Sabir N,Jones EA, Padmakumar BTrimethylaminuriaBMJ Case Rep002016
Friebel Det al.The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotinNeuropediatrics37272-782006
Lerner-Ellis JPet al.Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC typeNat Genet38193-1002006
Linnebank Met al.Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel casesJ Inherit Metab Dis2861167-11682005