Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.

[homocystinuria without methylmalonic aciduria]

Methylmalonic aciduria and homocystinuria , cobalamin C (CblC ) disease (OMIM 277400 ), is the most frequent inborn error of vitamin B 12 (cobalamin , Cbl ) metabolism and is caused by an inability of the cell to convert Cbl to its active forms (MeCbl and AdoCbl ). More than 75 mutations have been identified in the MMACHC gene which is responsible for CblC disease . We present a case with CblC disease and pulmonary arterial hypertension (PAH ) as the main symptom . The patient improved dramatically with parenteral hydroxocobalamin treatment . Most cases of CblC disease have a multisystemic disease with failure to thrive , developmental delay , hypotonia , visual impairment , and hematologic manifestations . This patient had isolated pulmonary hypertension and hyperhomocysteinemia which is thought to be an important factor in the pathogenesis of PAH . Genetic analysis identified a novel homozygous mutation (c .484 G > T ; p .Gly 162 T rp ) in the MMACHC gene . Conclusion : CblC disease should be considered in the differential diagnosis of pulmonary hypertension .

Diseases
Validation

Diseases presenting "hypertension" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

aniridia

aromatase deficiency

cadasil

child syndrome

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cushing syndrome

cystinuria

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

fabry disease

familial hypocalciuric hypercalcemia

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

kallmann syndrome

kindler syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

pendred syndrome

primary effusion lymphoma

scrub typhus

severe combined immunodeficiency

sneddon syndrome

typhoid

von hippel-lindau disease

well-differentiated liposarcoma

werner syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated