TY - JOUR
T1 - Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
AU - Frattini, D
AU - Fusco, C
AU - Tavazzi, Barbara
PY - 2010
Y1 - 2010
N2 - Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy.
AB - Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy.
KW - demyelinating neuropathy
KW - homocystinuria cblC type
KW - methylmalonic aciduria
KW - demyelinating neuropathy
KW - homocystinuria cblC type
KW - methylmalonic aciduria
UR - http://hdl.handle.net/10807/5321
M3 - Article
SN - 0887-8994
VL - 43
SP - 135
EP - 138
JO - Pediatric Neurology
JF - Pediatric Neurology
ER -