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Summary
HOMOCYSTINURIA DUE TO DEFECT OF N(5,10)-METHYLENE THF DEFICIENCY
MTHFR DEFICIENCY
236250
OMIM = Online Medalian Inheritance of Men
395
1p36.22
  • betaine
  • folinic acid
  • methionine
  • vitamin B12 (hydroxycobalamin)
  • Vitamin B6 (pyridoxine)
rare
autosomal recessive
one turkish patient known to the authors (unpublished) with paraplegia, mental retardation and typical laboratory findings
symptoms
behavior, abnormal or bizarre, confusion
developmental regression
dislocated lens (ectopia lentis)
early death
encephalopathy
mental retardation
microcephaly (<2 SD for age)
myopathy
onset, infancy
onset, neonatal
paraparesis/paraplegia
seizures
tachypnea, hyperpnea, dyspnea, respiratory distress
thromboembolism
laboratory finding
5,10-Methylenetetrahydrofolate reductase decreased activityfibroblasts
Homocystine15.00667.003.008.00+Ôé¼mol/24hurinenewborn
Homocystine12.00233.00 5.00-Ámol/lplasma
5,10-Methylenetetrahydrofolate reductase decreased activityliver
L-Methionine0.0018.0011.0030.00-Ámol/lplasma
Literature
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Blum WFInsulin+ñhnliche Wachstumsfaktoren und ihre BindungsproteineEndokrinologische Funktionsdiagnostik im Kindes- und Jugendalter, Hrsg. M.B.Ranke J & J Verlag Mannheim00116-1331993
Andersson HCMarble M, Shapira ELong-term outcome in treated combined methylmalonic acidemia and homocystinemiaGenet Med14146-1501999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Laberge AMet al.Long-term follow-up of a new case of liver glycogen synthase deficiencyAm J Med Genet A120119-222003
Beatty MEet al.Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GISMol Genet Metab694338-3402000
Ishiyama Get al.Canavans leukodystrophy is associated with defects in cochlear neurodevelopment and deafnessNeurology60101702-17042003
Steinberg SJFensom AH, Dalton NR, Toseland PA, Kennedy CR, Mowat APMeasurement of Plasma Very Long-Chain Fatty Acids as a Preliminary Screening Procedure for the Diagnosis of Peroxysomal DisordersJ Inher Metab Dis170323-3261994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Kamisago Met al.Mutations in sarcomere protein genes as a cause of dilated cardiomyopathyN Engl J Med343231688-16962000
Blum WFInsulin+ñhnliche Wachstumsfaktoren und ihre BindungsproteineEndokrinologische Funktionsdiagnostik im Kindes- und Jugendalter, Hrsg. M.B.Ranke J & J Verlag Mannheim00116-1331993