Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.

[homocystinuria without methylmalonic aciduria]

Combined methylmalonic aciduria and homocystinuria , cobalamin (cbl )C type (cblC disease ), the most common inborn error of vitamin B (12 ), is a rare disorder of intracellular cbl metabolism because of mutations in the MMACHC gene located in chromosome region 1 p 34 .1 . It has become possible to establish phenotype-genotype correlations and to observe ethnicity-related trends . This article provides detailed clinical manifestations and outcomes of a Taiwanese infant boy with early -onset cblC disease , heterozygous for c .609 G >A and c .567 dupT mutations , although there is limited information about cases with c .609 G >A or c .567 dupT mutation in the literature . He had no significant clinical abnormality during his neonatal period , whereas elevated C 3 level was noted at newborn screening . He presented later with life-threatening manifestations and failure to thrive , which resolved through our treatment , although delayed development was still noted at 6 months of age . To date , all reported cblC patients with the c .609 G >A mutation have been East Asians . Therefore , we suggest that c .609 G >A should be included in the initial mutation screening tests for a cblC patient in East Asian populations .

Diseases
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Diseases presenting "neonatal period" symptom

alexander disease

alpha-thalassemia

benign recurrent intrahepatic cholestasis

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cutaneous mastocytosis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

harlequin ichthyosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

neuralgic amyotrophy

pyruvate dehydrogenase deficiency

zellweger syndrome

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