Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program

Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray‐Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P.

doi:10.1016/s0022-3476(99)70280-5

Cited by 54 publications

(35 citation statements)

References 19 publications

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“…1 and Table 2) and adults (39 ) may be related to processes independent of cobalamin function, such as propionate production by intestinal bacteria (46 ) and liver (47 ) and kidney immaturity (48 ). The tubular system responsible for secretion of organic acids is not fully developed at birth (48 ).…”

Section: Possible Mechanisms and Implications Of Increased Metabolitementioning

confidence: 99%

Cobalamin Status and Its Biochemical Markers Methylmalonic Acid and Homocysteine in Different Age Groups from 4 Days to 19 Years

Monsen¹,

Refsum

Markestad³

et al. 2003

Clinical Chemistry

118

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Background: Recent data indicate that cobalamin and folate status, including the metabolic markers methylmalonic acid (MMA) and total homocysteine (tHcy), undergo marked changes during childhood, particularly during the first year. Methods: Serum cobalamin, serum and whole-blood folate, and plasma MMA and tHcy were determined in a cross-sectional study of 700 children, ages 4 days to 19 years. Results: During the first 6 months, serum cobalamin was lower than and plasma MMA, tHcy, and serum folate were higher than the concentrations detected in the other age groups. In infants 6 weeks to 6 months of age, median MMA and tHcy concentrations were >0.78 and >75 mol/L, respectively. In older children (>6 months), serum cobalamin peaked at 3-7 years and then decreased, median plasma MMA remained low (<0.26 mol/L), median plasma tHcy was low (<6 mol/L) and increased from the age of 7 years on, and serum folate gradually decreased. Plasma MMA was inversely associated with cobalamin (r ‫؍‬ ؊0.4) in both age groups, but across the whole range of cobalamin concentrations, MMA was markedly higher in infants (<6 months) than in older children. Plasma tHcy showed a strong negative correlation to cobalamin (r ‫؍‬ ؊0.52) but not to serum folate in infants <6 months. In older children, tHcy showed the expected association with both cobalamin (r ‫؍‬ ؊0.48) and folate (r ‫؍‬ ؊0.51).

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Section: Possible Mechanisms and Implications Of Increased Metabolitementioning

confidence: 99%

Cobalamin Status and Its Biochemical Markers Methylmalonic Acid and Homocysteine in Different Age Groups from 4 Days to 19 Years

Monsen¹,

Refsum

Markestad³

et al. 2003

Clinical Chemistry

118

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“…In the first weeks after birth, plasma concentrations of tHcy and folate are relatively stable (17 ), whereas MMA increases dramatically (14 ), sometimes leading to a benign or transient methylmalonic acidemia (44 ). The changes in MMA are only partly explained by changes in B 12 concentrations (14 ).…”

Section: Changes In Vitamins and Metabolites After Birthmentioning

confidence: 99%

Screening for Serum Total Homocysteine in Newborn Children

et al. 2004

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Results:The median (5th-95th percentile) tHcy concentration was 6.8 (4.2-12.8) mol/L. B 12 status, as determined by serum concentrations of B 12 , tHcy, and MMA, was moderately better in boys than in girls. tHcy concentrations between 10 and 20 mol/L were often associated with low B 12 , whereas tHcy >20 mol/L (n ‫؍‬ 43) was nearly always explained by increased methionine. tHcy did not differ according to folate concentrations or MTHFR 677C>T genotypes. None of the babies had definite CBS deficiencies, but heterozygosity led to low cystathionine, increased methionine, but normal tHcy concentrations.

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“…Progression to coma is not uncommon. If the patient does not succumb to the initial metabolic decompensation, failure to thrive, developmental retardation, renal failure and metabolic strokes follow [1,[3][4][5][6][7][8][9][10][11][12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Combined liver–kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature

Guire

Lim-Melia

Diaz

et al. 2008

Molecular Genetics and Metabolism

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Over 27 cases of liver transplant, kidney transplant and combined liver-kidney transplant have been reported for the treatment of methylmalonic aciduria. We describe a case of a 5-year-old boy who underwent combined liver-kidney transplant (CLKT) for phenotypic mut0 disease. His history was notable for more than 30 hospitalizations for severe acidosis, metabolic strokes, liver disease, pancreatic disease, chronic renal insufficiency with interstitial nephritis, and decreased quality of life. Post-CLKT, there was a marked reduction in serum (80%) and urine MMA levels (90%) as well as a cessation of metabolic decompensations. Neurologic deterioration continued post-CKLT manifested as a cerebellar stroke. The clinical details and therapeutic implications of solid organ transplant for methylmalonic aciduria are discussed.

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Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program

Cited by 54 publications

References 19 publications

Cobalamin Status and Its Biochemical Markers Methylmalonic Acid and Homocysteine in Different Age Groups from 4 Days to 19 Years

Cobalamin Status and Its Biochemical Markers Methylmalonic Acid and Homocysteine in Different Age Groups from 4 Days to 19 Years

Screening for Serum Total Homocysteine in Newborn Children

Combined liver–kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature

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