A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia.
J Inherit Metab Dis
; 28(5): 681-7, 2005.
Article
en En
| MEDLINE
| ID: mdl-16151898
ABSTRACT
We report a patient who was first diagnosed as having congenital carbamoyl-phosphate synthetase-1 (CPS-1) deficiency on the basis of significantly low CPS-1 activity in the liver at 1 year of age. We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome. This case demonstrates that low CPS-1 activity in liver, however significant it might be, does not always come from a primary CPS-1 deficiency and that we have to take into consideration the possibility of a secondary CPS-1 deficiency, such as HI/HA syndrome.
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Bases de datos:
MEDLINE
Asunto principal:
Carbamoil-Fosfato Sintasa (Amoniaco)
/
Hiperamonemia
/
Hiperinsulinismo
/
Hígado
/
Errores Innatos del Metabolismo
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
J Inherit Metab Dis
Año:
2005
Tipo del documento:
Article
País de afiliación:
Japón