Abstract | BACKGROUND: METHODS: Retrospective analysis of data from five new patients with GAMT deficiency (four with delays and seizures, one diagnosed at birth). RESULTS: The four symptomatic patients had decreased brain creatine by magnetic resonance spectroscopy and three also had abnormal globi pallidi by MRI. GAMT sequencing identified four previously reported mutations and one novel missense mutation (c.233T>A/p.V78E). Treatment with creatine (250-1000 mg/kg/day), ornithine (100-800 mg/kg/day), and sodium benzoate (50-135 mg/kg/day) supplements along with dietary protein restriction (0.8-1.5 g/kg/day) improved seizures and development with all patients becoming verbal. The patient treated at birth remains developmentally normal. Reduction in glycine and increase in ornithine levels significantly decreased plasma guanidinoacetate, with glycine levels being the best predictor of guanidinoacetate levels. In contrast, arginine levels were not significantly correlated with plasma guanidinoacetate. CONCLUSIONS:
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Authors | Krista S Viau, Sharon L Ernst, Marzia Pasquali, Lorenzo D Botto, Gary Hedlund, Nicola Longo |
Journal | Molecular genetics and metabolism
(Mol Genet Metab)
Vol. 110
Issue 3
Pg. 255-62
(Nov 2013)
ISSN: 1096-7206 [Electronic] United States |
PMID | 24071436
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2013. |
Chemical References |
- Ornithine
- Guanidinoacetate N-Methyltransferase
- Creatine
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Topics |
- Creatine
(administration & dosage)
- Diet, Protein-Restricted
- Female
- Genotype
- Guanidinoacetate N-Methyltransferase
(chemistry, deficiency, genetics, metabolism)
- Humans
- Infant
- Infant, Newborn
- Language Development Disorders
(diagnosis, genetics, metabolism, therapy)
- Magnetic Resonance Spectroscopy
- Male
- Movement Disorders
(congenital, diagnosis, genetics, metabolism, therapy)
- Mutation
- Ornithine
(administration & dosage)
- Treatment Outcome
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