Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.
Mol Genet Metab
; 116(1-2): 44-52, 2015.
Article
em En
| MEDLINE
| ID: mdl-26095522
ABSTRACT
A child with severe S-adenosylhomocysteine hydrolase (AHCY) deficiency (AHCY c.428A>G, p.Tyr143Cys; c.982T>G, p.Tyr328Asp) presented at 8 months of age with growth failure, microcephaly, global developmental delay, myopathy, hepatopathy, and factor VII deficiency. Plasma methionine, S-adenosylmethionine (AdoMet), and S-adenosylhomocysteine (AdoHcy) were markedly elevated and the molar concentration ratio of AdoMetAdoHcy, believed to regulate a myriad of methyltransferase reactions, was 15% of the control mean. Dietary therapy failed to normalize biochemical markers or alter the AdoMet to AdoHcy molar concentration ratio. At 40 months of age, the proband received a liver segment from a healthy, unrelated living donor. Mean AdoHcy decreased 96% and the AdoMetAdoHcy concentration ratio improved from 0.52±0.19 to 1.48±0.79 molmol (control 4.10±2.11 molmol). Blood methionine and AdoMet were normal and stable during 6 months of follow-up on an unrestricted diet. Average calculated tissue methyltransferase activity increased from 43±26% to 60±22%, accompanied by signs of increased transmethylation in vivo. Factor VII activity increased from 12% to 100%. During 6 postoperative months, head growth accelerated 4-fold and the patient made promising gains in gross motor, language, and social skills.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transplante de Fígado
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Glicina N-Metiltransferase
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Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Etiology_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Mol Genet Metab
Assunto da revista:
BIOLOGIA MOLECULAR
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BIOQUIMICA
/
METABOLISMO
Ano de publicação:
2015
Tipo de documento:
Article