TY - JOUR
T1 - Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome
T2 - Neurologic, ophthalmologic, and neuropsychologic examination of six patients
AU - Lemay, J. F.
AU - Lambert, M. A.
AU - Mitchell, G. A.
AU - Vanasse, M.
AU - Valle, D.
AU - Arbour, J. F.
AU - Dubé, J.
AU - Flessas, J.
AU - Laberge, M.
AU - Lafleur, L.
AU - Orquin, J.
AU - Qureshi, I. A.
AU - Dery, R.
N1 - Funding Information:
The hyperammonemia-hyperornithinemia-homocitrullinuria syndrome is an autosomal, recessive inborn error of ornithine metabolism.l Since the initial description of this condition, 2 30 patients have been reported. Most patients have a history of feeding problems, avoidance of protein-rich Supported in part by the Fonds de la Recherche en Sant6 du Qu6-bec and the Medical Research Council of Canada. Presented in preliminary form at the Fifth International Congress of Inborn Errors of Metabolism, Asilomar, Calif., June 1990. Submitted for publication Nov. 18, 1991; accepted June 10, 1992. Reprint requests: Marie Lambert, MD, Service de G6n~tique M6dicale, H6pital Sainte-Justine, 3175 C6te Sainte-Catherine, Montr6al, Qu6bec H3T 1C5, Canada. 9/20/40186 foods, recurrent vomiting, or growth retardation. The clinical picture also includes intermittent episodes of lethargy, developmental delay, ataxia, spasticity, peripheral neurop-
PY - 1992/11
Y1 - 1992/11
N2 - We report the clinical, electrophysiologic, ophthalmologic, and neuropsychologic features of six patients with hyperammonemia-hyperornithinemia-homocitrullinuria syndrome, an inborn error of ornithine metabolism. Pyramidal signs, decreased vibration sense, bucco-facio-lingual dyspraxia, and learning difficulties or subnormal intelligence were found in the majority. Anomalies of peripheral nerve conduction velocity and of evoked potentials were common, and one patient had markedly abnormal white matter images on cranial magnetic resonance imaging. One patient had retinal depigmentation and chorioretinal thinning. The clinical severity varied greatly among patients; in general, the three younger patients had less neurologic and intellectual impairment than did the three older patients. Only two of our patients have had episodes of symptomatic hyperammonemia. We conclude that hyperammonemia-hyperornithinemia-homocitrullinuria syndrome can be associated with widespread manifestations in the central and peripheral nervous systems. Although the control of hyperammonemia is an essential element in the treatment of these patients, the relationship of hyperammonemia to the chronic neuropsychologic problems of these patients is unclear.
AB - We report the clinical, electrophysiologic, ophthalmologic, and neuropsychologic features of six patients with hyperammonemia-hyperornithinemia-homocitrullinuria syndrome, an inborn error of ornithine metabolism. Pyramidal signs, decreased vibration sense, bucco-facio-lingual dyspraxia, and learning difficulties or subnormal intelligence were found in the majority. Anomalies of peripheral nerve conduction velocity and of evoked potentials were common, and one patient had markedly abnormal white matter images on cranial magnetic resonance imaging. One patient had retinal depigmentation and chorioretinal thinning. The clinical severity varied greatly among patients; in general, the three younger patients had less neurologic and intellectual impairment than did the three older patients. Only two of our patients have had episodes of symptomatic hyperammonemia. We conclude that hyperammonemia-hyperornithinemia-homocitrullinuria syndrome can be associated with widespread manifestations in the central and peripheral nervous systems. Although the control of hyperammonemia is an essential element in the treatment of these patients, the relationship of hyperammonemia to the chronic neuropsychologic problems of these patients is unclear.
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U2 - 10.1016/S0022-3476(05)81900-6
DO - 10.1016/S0022-3476(05)81900-6
M3 - Article
C2 - 1432421
AN - SCOPUS:0026498551
VL - 121
SP - 725
EP - 730
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 5 PART 1
ER -