First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.

[homocystinuria without methylmalonic aciduria]

Objective : Combined methylmalonic aciduria (MMA ) and homocystinuria , cblC type , is the most common MMA in Mainland China . Its clinical spectrum varies from severe neonatal -onset forms with brain injury and high mortality to milder forms with late onset . Timely diagnosis and adequate treatment greatly improve the prognosis . In the past 15 years , many Chinese patients with this condition have achieved favorable treatment outcomes , and some of them have reached childbearing age . Here , we report the first case of Chinese woman with cblC undergoing a successful pregnancy and delivering a healthy boy . Methods : A patient of late-onset cblC , who achieved successful pregnancy and delivery of a healthy boy , was enrolled in our studies . The patient and her disease characteristics were analyzed , including age at onset , age at diagnosis , clinical presentation , clinical classification , family history , laboratory findings and MMACHC gene mutation . Results : Our patient presented mild neurological symptoms at the age of 15 years . She had the compound heterozygous mutations , c .315 C >G and c .482 G >A , on the MMACHC gene . After long -term treatment with cobalamin , calcium folinate , l-carnitine and betaine , along with normal diet , she recovered completely . At age 23 , she visited us for genetic counseling and fetal evaluation at 15 weeks of gestation . Her general condition and the fetal growth were normal . At 20 weeks of gestation , intramuscular cobalamin was changed to pure hydroxocobalamin (1 mg , every other day ) because of markedly elevated urine MMA and plasma total homocysteine . In addition , the dosages of l-carnitine (1 g , p .o ., tds ), folic acid (5 mg , p .o ., tds ) and betaine (1 g , p .o ., tds ) were increased . Protein intake was not restricted . Conclusions : This is the first report of a Chinese woman with cblC , undergoing a successful pregnancy and delivering a healthy baby at term . The favorable outcome of the patient and her fetus should owe much to the mild phenotype of her disease .

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