ライフサイエンスコーパス: methylmalonic

1 74.1 nmol/L, and low vitamin B-12 status as methylmalonic acid > 271 nmol/L or serum vitamin B-12 <

2 B-12 function (vitamin B-12 <200 pmol/L and methylmalonic acid >0.27 micromol/L) in the total group

3 in B-12 concentrations <150 pmol/L, or serum methylmalonic acid >376 nmol/L.

4 tus [ie, plasma vitamin B-12 < 148 pmol/L or methylmalonic acid (MMA) > 210 nmol/L] with respect to a

5 racteristics of metabolic biomarkers such as methylmalonic acid (MMA) and holotranscobalamin II, whos

6 oloTc), or B(12)-associated metabolites like methylmalonic acid (MMA) and homocysteine (Hcy) concentr

7 exists at which the relation between plasma methylmalonic acid (MMA) and SB-12 changes slope to diff

8 al, cognitive, routine diagnostic, and serum methylmalonic acid (MMA) and total homocysteine (tHcy) t

9 Elevated plasma methylmalonic acid (MMA) and/or total homocysteine (tHcy

10 olate, serum vitamin B-12, homocysteine, and methylmalonic acid (MMA) concentrations in US children b

11 Plasma cobalamin and methylmalonic acid (MMA) concentrations were analyzed am

12 folate, vitamin B12, homocysteine (Hcy), and methylmalonic acid (MMA) concentrations with epigenetic

13 m Offspring Study, and performed analyses of methylmalonic acid (MMA) continuously and <210 nmol/L; p

14 Persons with high folate and normal methylmalonic acid (MMA) had lower odds of PCP (OR: 0.56

15 cobalamin (HoloTC), homocysteine (tHcy), and methylmalonic acid (MMA) have been measured.

16 12, and plasma total homocysteine (tHcy) and methylmalonic acid (MMA) in the US population.

17 Methylmalonic acid (MMA) is a by-product of propionic ac

18 Serum methylmalonic acid (MMA) is a specific functional indica

19 sis on the association between rs1801198 and methylmalonic acid (MMA) lacked statistical power.

20 Urinary methylmalonic acid (MMA) may be a more informative bioma

21 Plasma folate, vitamin B-12, and methylmalonic acid (MMA) were assessed in fasting blood

22 anscobalamin, total homocysteine (tHcy), and methylmalonic acid (MMA) were measured before and after

23 Specifically, we show that methylmalonic acid (MMA), a by-product of propionate met

24 Systemic levels of methylmalonic acid (MMA), a byproduct of propionate meta

25 , we bring to light the multifaceted role of methylmalonic acid (MMA), a byproduct of the propionate

26 B(12) status, total homocysteine (tHcy) and methylmalonic acid (MMA), among adult participants in ph

27 Here, we show that methylmalonic acid (MMA), an aging-increased oncometabol

28 min B-12, holotranscobalamin (holoTC), tHcy, methylmalonic acid (MMA), and folate with the use of lin

29 amin B-12, plasma total homocysteine (tHcy), methylmalonic acid (MMA), and holotranscobalamin into on

30 However, diagnostic algorithms using Cbl, methylmalonic acid (MMA), and homocysteine (HCys) measur

31 tus used in past NHANES--serum vitamin B-12, methylmalonic acid (MMA), and total homocysteine (tHcy)-

32 cy), cobalamin, holotranscobalamin (holoTC), methylmalonic acid (MMA), red blood cell folate (RBCF),

33 parison of baseline serum cobalamin, folate, methylmalonic acid (MMA), total homocysteine (tHcy), and

34 Methylmalonic acid (MMA), total homocysteine, and other

35 n and elevated total homocysteine (tHcy) and methylmalonic acid (MMA).

36 ma cobalamin, total homocysteine (tHcy), and methylmalonic acid (MMA).

37 plasma total homocysteine (tHcy), and plasma methylmalonic acid (MMA)].

38 the use of vitamin B-12 than with the use of methylmalonic acid (MMA; 3-26% and 2-6%, respectively).

39 vels of cobalamin (normal, 200 to 900 pg/mL) methylmalonic acid (normal, 73 to 271 nmol/L), and homoc

40 in the brain was evident from the increased methylmalonic acid (P<0.01-0.04), homocysteine (P<0.01),

41 or (S-TfR), plasma cobalamin (P-Cob), plasma methylmalonic acid (P-MMA), plasma folate (P-Fol), and s

42 vitamin B12, plasma homocysteine, and plasma methylmalonic acid (pMMA) concentration and urinary meth

43 th higher concentrations of homocysteine and methylmalonic acid and higher odds ratios for cognitive

44 w serum vitamin B12 levels or elevated serum methylmalonic acid and homocysteine levels.

45 the C-H and C-N modulated CSA experiments on methylmalonic acid and N-tBoc-glycine, respectively.

46 reased intracellular levels of propionic and methylmalonic acid and subsequent inhibition of HMGCR ac

47 e highest concentrations of homocysteine and methylmalonic acid and the lowest concentration of holot

48 eficiency who received treatment (15 of 21), methylmalonic acid and total homocysteine levels decreas

49 sorders characterized by the accumulation of methylmalonic acid and/or homocysteine in blood and urin

50 Elevated methylmalonic acid and/or total homocysteine are sensiti

51 ry results were significantly raised urinary methylmalonic acid compared with age-matched controls (p

52 n B-12 concentration < 148 pmol/L or a serum methylmalonic acid concentration > 210 nmol/L-the maximu

53 n B-12 concentration <148 pmol/L or a plasma methylmalonic acid concentration > or =210 nmol/L, the p

54 re, each 2-fold increment in homocysteine or methylmalonic acid concentration was associated with a d

55 with vitamin B-12 was associated with lower methylmalonic acid concentrations (P < 0.001).

56 Mean serum vitamin B-12 and methylmalonic acid concentrations did not differ; howeve

57 In addition, mean methylmalonic acid concentrations were significantly low

58 vitamin B-12 deficiency with elevated serum methylmalonic acid concentrations.

59 one users also had significantly lower serum methylmalonic acid concentrations.

60 ed blood cell folate, serum homocysteine, or methylmalonic acid concentrations.

61 and beta-carotene and lower homocysteine and methylmalonic acid concentrations.

62 ither vitamin B-12 or folate deficiency, and methylmalonic acid for detection of vitamin B-12 deficie

63 One year after transplant, urine methylmalonic acid indicates good vitamin B12 absorption

64 depression, had a significantly higher serum methylmalonic acid level and a nonsignificantly lower se

65 2 level less than 221 pmol/L and an elevated methylmalonic acid level; 2) a serum vitamin B12 level l

66 The higher serum cobalamin and lower serum methylmalonic acid levels at 4 months posttreatment in t

67 canisters consumed per week correlated with methylmalonic acid levels in the blood as a measure of f

68 alization of elevated total homocysteine and methylmalonic acid levels may prevent the development of

69 Methylmalonic acid may contribute to neuronal injury in

70 ene of Pseudomonas aeruginosa, which encodes methylmalonic acid semialdehyde dehydrogenase (MSDH) and

71 mentation may be effective in lowering serum methylmalonic acid values in the elderly.

72 s of vitamin B-12, folate, homocysteine, and methylmalonic acid were measured.

73 f folate, cobalamin, total homocysteine, and methylmalonic acid with cognitive performance at 2 occas

74 elderly population as documented by elevated methylmalonic acid with or without elevated total homocy

75 The use of serum vitamin B-12 and plasma methylmalonic acid would provide continuity with past NH

76 ency (homocysteine, hydroxykynurenine-ratio, methylmalonic acid) at recruitment, 1 month after commen

77 ine, S-adenosylmethionine, vitamin B(12), or methylmalonic acid), hematological measures, nor clinica

78 modeling associated the presence of HT with methylmalonic acid, 4-hydroxyphenylpyruvic acid, palmiti

79 lasma total vitamin B-12, 3 studies measured methylmalonic acid, and 6 studies measured total homocys

80 rum and red blood cell folate, vitamin B-12, methylmalonic acid, and homocysteine concentrations amon

81 ean pretreatment values for serum cobalamin, methylmalonic acid, and homocysteine were, respectively,

82 the amount of B12 bound to TCII (holoTCII), methylmalonic acid, and homocysteine, in 128 healthy old

83 were assessed for vitamin B12, folate, Hcy, methylmalonic acid, and next-generation clinical exome s

84 elevation of the metabolites, homocysteine, methylmalonic acid, and the ligand, transcobalamin II, i

85 serum concentrations of total vitamin B-12, methylmalonic acid, and total homocysteine are all effec

86 Serum levels of vitamin B12, folate, methylmalonic acid, and total homocysteine measured befo

87 Serum levels of vitamin B(12), folate, methylmalonic acid, and total homocysteine were assayed

88 n status (defined by low cobalamin, elevated methylmalonic acid, and/or elevated homocysteine concent

89 Homocysteine, methylmalonic acid, holotranscobalamin, ratio of holotra

90 using markers such as holotranscobalamin and methylmalonic acid, it has been found that cognition is

91 ne, kynurenine, leucine, lysine, methionine, methylmalonic acid, ornithine, phenylalanine, proline, s

92 , show failure to thrive, and show increased methylmalonic acid, propionylcarnitine, odd chain fatty

93 rum vitamin B-12, total homocysteine (tHcy), methylmalonic acid, serum folic acid, and 5-methyltetrah

94 ion test and measurement of homocysteine and methylmalonic acid, to cobalamin status has identified t

95 Methylmalonic acid, which is formed from the MCM substra

96 as associated with elevated homocysteine and methylmalonic acid, which were reduced by folate and vit

97 alonic acid (pMMA) concentration and urinary methylmalonic acid-to-creatinine ratio.

98 ular mitochondrial inhibitor and neurotoxin, methylmalonic acid.

99 total transcobalamin, total haptocorrin, and methylmalonic acid.

100 Organic acidemias such as methylmalonic acidemia (MMA) are a group of inborn error

101 Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare autosomal recessiv

102 Isolated methylmalonic acidemia (MMA) is managed by dietary prote

103 Methylmalonic acidemia (MMA) is one of the most common i

104 ficiency, including propionic acidemia (PA), methylmalonic acidemia (MMA), and phenylketonuria (PKU).

105 common organic acidemias, propionic (PA) and methylmalonic acidemia (MMA), arise from deficient activ

106 Isolated methylmalonic acidemia (MMA), caused by deficiency of th

107 albumin locus and tested in mouse models of methylmalonic acidemia (MMA).

108 ccb-related propionic acidemia (PA) and mmut methylmalonic acidemia (MMA).

109 Combined methylmalonic acidemia and homocystinuria (cblC) is the

110 born error of cobalamin metabolism, combined methylmalonic acidemia and hyperhomocysteinemia, cblC ty

111 enetic basis of an X-linked form of combined methylmalonic acidemia and hyperhomocysteinemia, designa

112 nction occur in a tissue-specific fashion in methylmalonic acidemia and suggest treatment approaches

113 Methylmalonic acidemia is an autosomal recessive inborn

114 parallel, the liver from a patient with mut methylmalonic acidemia was studied in a similar fashion.

115 Two adult brothers, one documented to have methylmalonic acidemia with homocystinuria, or cobalamin

116 results in the biochemical perturbations of methylmalonic acidemia, hyperhomocysteinemia and hypomet

117 mimicking the human diseases propionic- and methylmalonic acidemia, in which the canonical B12-depen

118 r maple syrup urine disease, homocystinuria, methylmalonic acidemia, propionic acidemia, glutaric aci

119 of patients suffering from the mut- form of methylmalonic acidemia, resulting from defective AdoCbl

120 inical features of cblC deficiency including methylmalonic acidemia, severe growth retardation and le

121 oding this enzyme result in the mut forms of methylmalonic acidemia.

122 traindicated, e.g. in propionic acidemia and methylmalonic acidemia.

123 fy the genetic basis of combined malonic and methylmalonic aciduria (CMAMMA).

124 Methylmalonic aciduria (MMAuria), caused by deficiency o

125 compound heterozygotes for mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC

126 ficient for its interaction with MMADHC (the methylmalonic aciduria and homocystinuria type C protein

127 MMADHC (the methylmalonic aciduria and homocystinuria type D protein

128 Mutations in the cblC gene lead to methylmalonic aciduria and homocystinuria.

129 min trafficking, and mutations in CblD cause methylmalonic aciduria and/or homocystinuria.

130 n regions and described combined malonic and methylmalonic aciduria as a biochemical manifestation.

131 east two biologically compelling candidates, methylmalonic aciduria cblB type (MMAB) and mevalonate k

132 he missense mutations in MMAA that result in methylmalonic aciduria have been mapped onto MeaB and, i

133 Many of the mutations that cause methylmalonic aciduria in humans affect residues in the

134 region of MMAA lead to the genetic disorder methylmalonic aciduria in which the body is unable to pr

135 G-protein metallochaperone MeaB in bacteria [methylmalonic aciduria type A (MMAA) in humans] is respo

136 Mutations in ATR lead to methylmalonic aciduria type B, an inborn error of B(12)

137 cobalamin metabolism and due to mutations in Methylmalonic Aciduria type C and Homocystinuria (MMACHC

138 n humans, deficiencies in the mutase lead to methylmalonic aciduria, a rare disease that is fatal in

139 in the human homolog of MeaB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism th

140 ions in the human ortholog of MeaB result in methylmalonic aciduria, an inborn error of metabolism.

141 n the human homologue of MeaB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism.

142 mutation, D180X, described in a patient with methylmalonic aciduria, and characterized the associated

143 7 days of age with poor feeding, hypotonia, methylmalonic aciduria, and elevated plasma homocysteine

144 cts in the human homologue of MeaB result in methylmalonic aciduria, but the role of this protein in

145 acidemia type 1, maple syrup urine disease, methylmalonic aciduria, ornithine transcarbamylase defic

146 was allocated to a pediatric patient having methylmalonic aciduria, whereas the right graft was allo

147 plains the biochemical penalties incurred by methylmalonic aciduria-causing mutations that reside at

148 ase (EC 5.4.99.2) result in the mut forms of methylmalonic aciduria.

149 cript level, explaining combined malonic and methylmalonic aciduria.

150 Failure to assemble holo-MCM leads to methylmalonic aciduria.

151 t manifest in both severe homocystinuria and methylmalonic aciduria.

152 mulation of inactive enzyme and resulting in methylmalonic aciduria.

153 dysfunction in human patients suffering from methylmalonic aciduria.

154 uman ACA have been identified in humans with methylmalonic aciduria.

155 s residues responsible for the human disease methylmalonic aciduria.

156 t defects in its encoding gene underlie cblB methylmalonic aciduria.

157 known function, MMAA, has been implicated in methylmalonic aciduria.

158 carboxylic acids, such as oxalic, malonic, 3-methylmalonic, and cyclobutanedicarboxylic acid, was uti

159 ts for the thermal decomposition of malonic, methylmalonic, and dimethylmalonic anhydrides were measu

160 phenylketonuria, maple syrup urine disease, methylmalonic, and propionic acidemia.

161 Methylmalonic anhydride is the fastest, with the lowest