ISSN:
1432-1076
Keywords:
Key words Atretic encephalocele
;
Hyperammonaemia
;
Partial N-acetylglutamate synthase deficiency
;
Patent ductus venosus (Arantii)
;
Portosystemic encephalopathy
;
AbbreviationsCPS carbamoyl phosphate synthase
;
MRA magnetic resonance angiography
;
NAGS N-acetylglutamate synthase
;
PDV patent ductus venosus
;
PSE portosystemic encephalopathy
;
PSVS portosystemic venous shunt
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We describe a 6-year-old boy admitted with lethargy and somnolence. Laboratory tests showed hyperammonaemia (arterial level 186 μmol/l) and slightly elevated prothrombin time. The patient was treated with sodium benzoate, lactulose and a protein-restricted diet. This resulted in an insufficient decrease in blood ammonia levels. Metabolic investigations were unrevealing apart from a slightly elevated urinary glutamine concentration. Liver tissue showed steatosis and mildly decreased activity of N-acetylglutamate synthase suggesting partial deficiency. Treatment with N-carbamyl glutamate did not affect serum ammonia levels. Colour Doppler sonography and MR angiography demonstrated a patent ductus venosus. After surgical ligation of the ductus venosus, serum ammonia levels returned to normal and mental and motor performance improved markedly. Conclusion In late onset hyperammonaemia, partial N-acetylglutamate synthase deficiency and portocaval shunt should be ruled out.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/PL00008367
Permalink
