Abstract
Hyperinsulinism-hyperammonaemia syndrome (HHS) is a rare cause of congenital hyperinsulinism, due to missense mutations in the GLUD1 gene, resulting in glutamate dehydrogenase (GDH) overactivity. The aim of this study was to document the spectrum of neurological disturbances associated with HHS and to identify possible phenotype-genotype correlations. We retrospectively analyzed the neurological outcomes of 22 consecutive patients (12 males, 10 females) aged from 18 months to 40 years and diagnosed with HHS. We analyzed demographic and clinical features and neuroradiological, biochemical, and genetic findings. Fourteen patients had childhood-onset epilepsy. Learning disability* was found in 17 patients. Two patients had pyramidal involvement and one had generalized dystonia. Seizures were observed in 11 of 19 patients with documented GLUD1 mutations, and nine of these 11 patients had a mutation in the guanosine triphosphate (GTP) binding site. Our data demonstrate that neurological disorders in HHS are more frequent than previously thought and might suggest that mutations in the GTP binding site of GDH could be associated with more frequent epilepsy.
| Original language | English |
|---|---|
| Pages (from-to) | 945-949 |
| Number of pages | 5 |
| Journal | Developmental Medicine and Child Neurology |
| Volume | 50 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - 2008 |
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ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
Cite this
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. / Bahi-Buisson, Nadia; Roze, Emmanuel; Dionisi, Carlo; Escande, Fabienne; Valayannopoulos, Vassili; Feillet, François; Heinrichs, Claudine.
In: Developmental Medicine and Child Neurology, Vol. 50, No. 12, 2008, p. 945-949.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Neurological aspects of hyperinsulinism-hyperammonaemia syndrome
AU - Bahi-Buisson, Nadia
AU - Roze, Emmanuel
AU - Dionisi, Carlo
AU - Escande, Fabienne
AU - Valayannopoulos, Vassili
AU - Feillet, François
AU - Heinrichs, Claudine
PY - 2008
Y1 - 2008
N2 - Hyperinsulinism-hyperammonaemia syndrome (HHS) is a rare cause of congenital hyperinsulinism, due to missense mutations in the GLUD1 gene, resulting in glutamate dehydrogenase (GDH) overactivity. The aim of this study was to document the spectrum of neurological disturbances associated with HHS and to identify possible phenotype-genotype correlations. We retrospectively analyzed the neurological outcomes of 22 consecutive patients (12 males, 10 females) aged from 18 months to 40 years and diagnosed with HHS. We analyzed demographic and clinical features and neuroradiological, biochemical, and genetic findings. Fourteen patients had childhood-onset epilepsy. Learning disability* was found in 17 patients. Two patients had pyramidal involvement and one had generalized dystonia. Seizures were observed in 11 of 19 patients with documented GLUD1 mutations, and nine of these 11 patients had a mutation in the guanosine triphosphate (GTP) binding site. Our data demonstrate that neurological disorders in HHS are more frequent than previously thought and might suggest that mutations in the GTP binding site of GDH could be associated with more frequent epilepsy.
AB - Hyperinsulinism-hyperammonaemia syndrome (HHS) is a rare cause of congenital hyperinsulinism, due to missense mutations in the GLUD1 gene, resulting in glutamate dehydrogenase (GDH) overactivity. The aim of this study was to document the spectrum of neurological disturbances associated with HHS and to identify possible phenotype-genotype correlations. We retrospectively analyzed the neurological outcomes of 22 consecutive patients (12 males, 10 females) aged from 18 months to 40 years and diagnosed with HHS. We analyzed demographic and clinical features and neuroradiological, biochemical, and genetic findings. Fourteen patients had childhood-onset epilepsy. Learning disability* was found in 17 patients. Two patients had pyramidal involvement and one had generalized dystonia. Seizures were observed in 11 of 19 patients with documented GLUD1 mutations, and nine of these 11 patients had a mutation in the guanosine triphosphate (GTP) binding site. Our data demonstrate that neurological disorders in HHS are more frequent than previously thought and might suggest that mutations in the GTP binding site of GDH could be associated with more frequent epilepsy.
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UR - http://www.scopus.com/inward/citedby.url?scp=56849124017&partnerID=8YFLogxK
U2 - 10.1111/j.1469-8749.2008.03114.x
DO - 10.1111/j.1469-8749.2008.03114.x
M3 - Article
C2 - 19046187
AN - SCOPUS:56849124017
VL - 50
SP - 945
EP - 949
JO - Developmental Medicine and Child Neurology
JF - Developmental Medicine and Child Neurology
SN - 0012-1622
IS - 12
ER -