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1.
J Hum Genet ; 55(1): 18-22, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19893582

RESUMO

We performed haplotype analysis using nine single nucleotide polymorphisms in the ornithine transcarbamylase gene to explore the ancestral origins of three mutations associated with late-onset phenotype in male patients: p.R40H, p.R277W and p.Y55D. Overall, 8 haplotypes were defined among 14 families carrying p.R40H, 5 families carrying p.R277W and 2 families with p.Y55D mutations. Of nine Japanese families carrying p.R40H, eight exhibited haplotype (HT)1, whereas the other family harbored HT2. Among three Caucasian families, one Spanish and one Australian family bore HT3; one Austrian family had HT4. Two US patients harbored HT2 and HT4. Among families carrying p.R277W, HT5 was found in one Japanese, one Korean and one US family. Two other US families had HT2 and HT6. Two families carrying p.Y55D, both Japanese, shared HT1. These results indicate that the p.R40H mutation has arisen recurrently in all populations studied, although there is evidence for a founder effect in Japan, with most cases probably sharing a common origin, and to a lesser extent in subjects of European ancestry (HT3). It is evident that p.R277W mutation has recurred in discrete populations. The p.Y55D mutation appears to have arisen from a common ancestor, because this transversion (c.163T>G) occurs rarely.


Assuntos
Alelos , Mutação , Doença da Deficiência de Ornitina Carbomoiltransferase/genética , Ornitina Carbamoiltransferase/genética , Idade de Início , Povo Asiático , Evolução Molecular , Frequência do Gene , Haplótipos , Humanos , Japão , Masculino , Ornitina Carbamoiltransferase/química , Polimorfismo de Nucleotídeo Único , População Branca
2.
J Nutr ; 134(6 Suppl): 1605S-1609S; discussion 1630S-1632S, 1667S-1672S, 2004 06.
Artigo em Inglês | MEDLINE | ID: mdl-15173438

RESUMO

Various disorders cause hyperammonemia during childhood. Among them are those caused by inherited defects in urea synthesis and related metabolic pathways. These disorders can be grouped into two types: disorders of the enzymes that comprise the urea cycle, and disorders of the transporters or metabolites of the amino acids related to the urea cycle. Principal clinical features of these disorders are caused by elevated levels of blood ammonium. Additional disease-specific symptoms are related to the particular metabolic defect. These specific clinical manifestations are often due to an excess or lack of specific amino acids. Treatment of urea cycle disorders and related metabolic diseases consists of nutritional restriction of proteins, administration of specific amino acids, and use of alternative pathways for discarding excess nitrogen. Although combinations of these treatments are extensively employed, the prognosis of severe cases remains unsatisfactory. Liver transplantation is one alternative for which a better prognosis is reported.


Assuntos
Doenças Metabólicas/fisiopatologia , Erros Inatos do Metabolismo/fisiopatologia , Ureia/metabolismo , Criança , Humanos , Doenças Metabólicas/terapia , Erros Inatos do Metabolismo/genética , Erros Inatos do Metabolismo/terapia , Prognóstico , Compostos de Amônio Quaternário/intoxicação
3.
Mol Genet Metab ; 76(3): 207-10, 2002 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12126934

RESUMO

Fructose-1,6-bisphosphatase (FBPase) (EC 3.1.3.11) catalyzes the splitting of fructose-1,6-bisphosphate into fructose 6-phosphate and inorganic phosphate. FBPase deficiency is an autosomal recessive inherited disorder caused by distraction of the fructose-1,6-bisphosphatase 1 gene (FBP1) and features severely impaired gluconeogenesis. We studied a female patient with typical FBPase deficiency symptoms. The FBPase activity of her peripheral white blood cells was undetectable. Genetic analyses of FBP1 revealed her to be a compound-heterozygote of two new mutations F194S and P284R. Gene tracking in the family revealed the mother to be a heterozygote of F194S, and the father and a sister to be heterozygotes of P284R. As both Phe194 and Pro284 of FBPase are highly conserved in many species and close to crucial amino acid residues to FBPase functions, these mutations could be responsible for the loss of FBPase activities.


Assuntos
Frutose-Bifosfatase/genética , Genoma Humano , Erros Inatos do Metabolismo/genética , Mutação , Sequência de Bases , Primers do DNA , Feminino , Heterozigoto , Humanos , Japão , Erros Inatos do Metabolismo/enzimologia , Linhagem
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