Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.

[homocystinuria without methylmalonic aciduria]

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 .271 dupA and c .616 C >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 .

Diseases
Validation

Diseases presenting "homocystinuria" symptom

adrenomyeloneuropathy

cohen syndrome

homocystinuria without methylmalonic aciduria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

This symptom has already been validated