[A patient with neonatal citrullinemia]. / Een patiënt met neonatale citrullinemie.
Tijdschr Kindergeneeskd
; 51(3): 104-9, 1983 Jun.
Article
en Nl
| MEDLINE
| ID: mdl-6636107
ABSTRACT
In a four days old neonate, showing feeding difficulties, temperature imbalance, convulsions and coma, citrullinaemia was diagnosed. Subsequent treatment, consisting of protein-restriction, exchange transfusions, arginine suppletion and using an alternative pathway for waste nitrogen excretion (through sodium benzoate administration), resulted in a stable clinical and biochemical condition. Aged ten months, our patient shows a normal growth with psychomotor retardation probably linked with the perinatal events. Because it seems possible nowadays to prolong survival in neonates with inborn errors of urea synthesis, prompt and correct diagnosing of these disease entities becomes urgent in view of the long-term prognosis for the children involved.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Citrulina
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
Nl
Revista:
Tijdschr Kindergeneeskd
Año:
1983
Tipo del documento:
Article