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Metabolic disease: deficit in ornithine carbamyl transferase about an observational case

Hicham Chemsi, Dounia Chahid, Malika Mrijina, Mounir Chemsi, Nabiha Kamal.


Introduction The deficiency in ornithine carbamyl transferase (OCT) is an enzyme deficiency transmitted in the recessive or dominant mode associated with X. Complete deficit is still expressed in hemizygous boys in a very severe and often fatal neonatal hyperammonic coma. We report a clinical case of a revelation of an OCT enzyme deficiency in a newborn.
Observation This is a female newborn, a premature mother and a scheduled caesarean delivery. At J7 of life, neonatal hypotonia appeared, stable on the liver and respiratory level. The anterior fontanelle is normotendue, with a malformative balance without peculiarities. The lumbar puncture performed is normal. The biochemical assessment carried out showed low uremia, hypocalcemia and very high hyperammoniemia. Viral and bacterial serologies were negative. The hemogram performed was normal, the hemostasis balance showed a low TP with an elongated TCA and decreased fibrinogen. Factor V was collapsed with a value of 21%. The patient was hospitalized in neonatal resuscitation. The chromatography of the amino acids was able to confirm a metabolic disease whose diagnosis is an OCT deficiency.
Conclusion The expression of hereditary metabolic diseases in the neonatal period is not very specific. Metabolic exploration should be systematically in the face of any situation of neonatal distress.

Key words: hyperammonemia, newborn baby, OCT

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