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 "neuropathy" symptom

adrenomyeloneuropathy

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

focal myositis

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

inclusion body myositis

krabbe disease

malignant atrophic papulosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

neuralgic amyotrophy

oculocutaneous albinism

pendred syndrome

phenylketonuria

pyomyositis

pyruvate dehydrogenase deficiency

sneddon syndrome

thoracic outlet syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

wolf-hirschhorn syndrome

This symptom has already been validated