Abstract | BACKGROUND: METHODS: Clinical findings of four Thai patients with PA were retrospectively reviewed. Urine organic acids were analyzed by gas chromatography-mass spectrometry. PCR-sequencing analyses of encoding exons and intron/exon boundaries of the PCCA and PCCB genes were performed. RESULTS: All patients had neonatal onset of PA. One patient died of cardiomyopathy, and another one of pneumonia and metabolic decompensation. The remainder experienced significant neurocognitive impairment. Mutation analysis of the PCCA gene identified homozygous c.1284+1G>A in patient 1, c.230G>A (p.R77Q) and c.1855C>T (p.R619X) in patient 2, homozygous c.2125T>C (p.S709P) in patient 3, and only one mutant allele, c.231+1G>T in patient 4. No PCCB mutation was identified. Four mutations including c.230G>A, c.231+1G>T, c.1855C>T, and c.2125T>C have not been reported previously. CONCLUSIONS: The clinical and molecular study of these Thai patients provided additional knowledge of the genotype and phenotype characteristics of PA. The results of the study suggested that PCCA mutations in Asian populations were distinct from those of other populations.
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Authors | Nithiwat Vatanavicharn, Somporn Liammongkolkul, Osamu Sakamoto, Mahattana Kamolsilp, Achara Sathienkijkanchai, Pornswan Wasant |
Journal | World journal of pediatrics : WJP
(World J Pediatr)
Vol. 10
Issue 1
Pg. 64-8
(Feb 2014)
ISSN: 1867-0687 [Electronic] Switzerland |
PMID | 24464666
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Carbon-Carbon Ligases
- propionyl CoA carboxylase (ATP-hydrolyzing)
- Methylmalonyl-CoA Decarboxylase
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Topics |
- Carbon-Carbon Ligases
(deficiency, genetics)
- DNA Mutational Analysis
- Female
- Gas Chromatography-Mass Spectrometry
- Genotype
- Humans
- Infant, Newborn
- Male
- Methylmalonyl-CoA Decarboxylase
(genetics)
- Phenotype
- Polymerase Chain Reaction
- Propionic Acidemia
(complications, genetics, mortality)
- Retrospective Studies
- Thailand
(epidemiology)
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