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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
autosomal recessive
symptoms
anemia
blindness, visual loss, visual impairment
cerebral atrophy
failure to thrive
feeding difficulties
leukoencephalopathy
mental retardation
laboratory finding
Homocystine0.000.00 increasedurineno data
Methionine decreasedplasma
Methylmalonic acid0.000.00 normalurineno data
VEP (visual evoked potentials), abnormal -
Literature
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