Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
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.
Frattini
Daniele
D
Child Neurology Unit, Arcispedale Santa Maria Nuova, 42100 Reggio Emilia, Italy. frattini.daniele@asmn.re.it
Fusco
Carlo
C
Ucchino
Valentina
V
Tavazzi
Barbara
B
Della Giustina
Elvio
E
D003711:Demyelinating Diseases / Q000150:complications / Q000652:urine*; D005260:Female; D056726:Genetic Association Studies; D006712:Homocystinuria / Q000150:complications / Q000652:urine*; D006801:Humans; D007223:Infant; D008764:Methylmalonic Acid / Q000652:urine*; D009431:Neural Conduction / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000652:urine*
D008764:Methylmalonic Acid