Intermittent hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency.
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder and the most common inherited cause of hyperammonemia. Clinical manifestations are more severe in hemizygous males who often present in neonatal period. Heterozygous females may be asymptomatic until juvenile or adulthood. Fluctuating concentration of ammonia, glutamine and other excitotoxic amino acids result in a chronic or episodically recurring encephalopathy. The authors report a heterozygous female with OTC deficiency who presented with recurrent encephalopathy.
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. sheffalig@yahoo.com
Sheffali
S
Gulati
Shaji
S
Menon
Madhulika
M
Kabra
Veena
V
Kalra
D001928:Brain Diseases, Metabolic / Q000178:diet therapy / Q000209:etiology*; D002675:Child, Preschool; D018753:Diet, Protein-Restricted; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000178:diet therapy / Q000209:etiology*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications*