Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients
EMHJ-Eastern Mediterranean Health Journal. 1999; 5 (6): 1196-1203
em Inglês
| IMEMR
| ID: emr-156717
ABSTRACT
We considered the clinical, biochemical and radiological findings, and response to pyridoxine [vitamin B6] of 24 classic homocystinuric patients [15 females, 9 males] diagnosed at King Faisal Specialist Hospital and Research Centre. Common clinical findings included ectopia lentis [20 patients], skeletal system involvement [18 patients], vascular system involvement [9 patients] and mental retardation [all patients to varying degrees]. A number of unusual findings were reported. The parents of 21 patients were first-degree relatives and 19 patients had at least one other family member affected by the same disease. Only 4 patients responded to pyridoxine; their methionine level decreased to almost normal range
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IMEMR (Mediterrâneo Oriental)
Assunto principal:
Linhagem
/
Piridoxina
/
Betaína
/
Pré-Escolar
/
Resultado do Tratamento
/
Monitoramento de Medicamentos
/
Quimioterapia Combinada
/
Ácido Fólico
/
Metionina
Limite:
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
East Mediterr Health J.
Ano de publicação:
1999
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