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Summary
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE
METHYLCOBALAMIN DEFICIENCY, cblG TYPE
250940
OMIM = Online Medalian Inheritance of Men
2170
1q43
rare (40 cases)
autosomal recessive
mutation in the MTR gene
symptoms
anemia
blindness, visual loss, visual impairment
cerebral atrophy
failure to thrive
feeding difficulties, poor feeding
hypotonia
leukoencephalopathy
mental retardation
nystagmus
onset, infancy
psychomotor retardation
seizures
laboratory finding
L-Homocystine180.00540.00 mmol/mol creatinineurine
Methionine decreasedplasma
Methylmalonic acid50.00250.000.00170.00mmol/mol creatinineurine
VEP (visual evoked potentials), abnormal -
Betaine1200.005000.00 mmol/mol Creaurine
Literature
Loupatty FJ,et al.Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegenerationAm J Hum Genet801195-1592007
Brousseau MEet al.Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindredJ Lipid Res413433-4412000
Sutton VRet al.3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiencyJ Inherit Metab Dis26169-712003
Holme ELindstedt S, Lock EATreatment of tyrosinemia type I with an enzyme inhibitor (NTBC)International Pediatrics10141-431995
Poll-The BT, et al.Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseasesMol Genet Metab814295-2992004
Hobbs HHRader DJABC1: connecting yellow tonsils, neuropathy, and very low HDLJ Clin Invest10481015-10171999