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 "early onset" symptom

22q11.2 deletion syndrome

alexander disease

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

coats disease

cohen syndrome

congenital diaphragmatic hernia

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erythropoietic protoporphyria

fabry disease

familial mediterranean fever

homocystinuria without methylmalonic aciduria

inclusion body myositis

kindler syndrome

krabbe disease

papillon-lefèvre syndrome

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

scrub typhus

sneddon syndrome

triple a syndrome

von hippel-lindau disease

werner syndrome

wolf-hirschhorn syndrome

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