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Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia.

Imataka G, Sakamoto O, Yamanouchi H, Yoshihara S, Omura-Hasegawa Y, Tajima G, Arisaka O - Cell Biochem. Biophys. (2013)

Bottom Line: We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8.The results of organic acid test showed a pronounced increase in methylmalonate excretion with increased methylcitrate and 3-OH-propionate excretion, leading to a diagnosis of MMA, and Vitamin B12 administration was started.Further tests on residual enzyme activity, as well as experience with more cases, may shed light on the relationship between gene mutations and phenotypes in MMA.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, School of Medicine, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan. geo@dokkyomed.ac.jp

ABSTRACT
We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8. The results of organic acid test showed a pronounced increase in methylmalonate excretion with increased methylcitrate and 3-OH-propionate excretion, leading to a diagnosis of MMA, and Vitamin B12 administration was started. Analysis of the mut gene confirmed a T-to-A substitution at nucleotide position 1481 in exon 8 and a T-to-C substitution at nucleotide position 2216 in exon 13, leading to the amino acid isoleucine at position 739 being changed to threonine, resulting in c.2216T > C (p.I739T). The patient has now been on high-dose oral administration of Vitamin B12 and carnitine therapy (900 mg of levocarnitine chloride) for 5 years without experiencing further attacks, and her cognitive and motor development is normal. Further tests on residual enzyme activity, as well as experience with more cases, may shed light on the relationship between gene mutations and phenotypes in MMA.

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Related in: MedlinePlus

a Mutation c.1481T > A (p.L494X) in exon 8 of MUT gene. b Novel c.2216T > C (p.I739T) mutation in exon 13 of MUT gene
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Fig1: a Mutation c.1481T > A (p.L494X) in exon 8 of MUT gene. b Novel c.2216T > C (p.I739T) mutation in exon 13 of MUT gene

Mentions: Analysis of the mut gene was performed for definitive analysis of the type of MMA in this patient. A T-to-A substitution at nucleotide position 1481 in exon 8 of the mut gene was found in a heterozygous pattern (Fig. 1a).Fig. 1


Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia.

Imataka G, Sakamoto O, Yamanouchi H, Yoshihara S, Omura-Hasegawa Y, Tajima G, Arisaka O - Cell Biochem. Biophys. (2013)

a Mutation c.1481T > A (p.L494X) in exon 8 of MUT gene. b Novel c.2216T > C (p.I739T) mutation in exon 13 of MUT gene
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3756855&req=5

Fig1: a Mutation c.1481T > A (p.L494X) in exon 8 of MUT gene. b Novel c.2216T > C (p.I739T) mutation in exon 13 of MUT gene
Mentions: Analysis of the mut gene was performed for definitive analysis of the type of MMA in this patient. A T-to-A substitution at nucleotide position 1481 in exon 8 of the mut gene was found in a heterozygous pattern (Fig. 1a).Fig. 1

Bottom Line: We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8.The results of organic acid test showed a pronounced increase in methylmalonate excretion with increased methylcitrate and 3-OH-propionate excretion, leading to a diagnosis of MMA, and Vitamin B12 administration was started.Further tests on residual enzyme activity, as well as experience with more cases, may shed light on the relationship between gene mutations and phenotypes in MMA.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, School of Medicine, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan. geo@dokkyomed.ac.jp

ABSTRACT
We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8. The results of organic acid test showed a pronounced increase in methylmalonate excretion with increased methylcitrate and 3-OH-propionate excretion, leading to a diagnosis of MMA, and Vitamin B12 administration was started. Analysis of the mut gene confirmed a T-to-A substitution at nucleotide position 1481 in exon 8 and a T-to-C substitution at nucleotide position 2216 in exon 13, leading to the amino acid isoleucine at position 739 being changed to threonine, resulting in c.2216T > C (p.I739T). The patient has now been on high-dose oral administration of Vitamin B12 and carnitine therapy (900 mg of levocarnitine chloride) for 5 years without experiencing further attacks, and her cognitive and motor development is normal. Further tests on residual enzyme activity, as well as experience with more cases, may shed light on the relationship between gene mutations and phenotypes in MMA.

Show MeSH
Related in: MedlinePlus