Nonketotic hyperglycinemia in two retarded adults

Flannery, David B.; Pellock, John M.; Bousounis, D; Hunt, Patricia; Nance, Carol S.; Wolf, Barry

doi:10.1212/wnl.33.8.1064

Cited by 26 publications

(15 citation statements)

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“…The rest of the patients presented with mental retardation after they entered school or during adolescence. There is some confusion in terms of phenotypic classification of the mild form of the infantile type and the late-onset type, since there are some reports of patients in whom developmental delay or mild hypotonia started in the middle or late infantile periods [Flannery et al, 1983;Singer et al, 1989]. We classified such patients as having the infantile type-not the late-onset type.…”

Section: Materials and Methods Patientsmentioning

confidence: 99%

Comprehensive mutation analysis ofGLDC,AMT, andGCSHin nonketotic hyperglycinemia

et al. 2006

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Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms. NKH is caused by deficiency of the glycine cleavage multi-enzyme system with three specific components encoded by GLDC, AMT, and GCSH. We undertook the first comprehensive screening for GLDC, AMT, and GCSH mutations in 69 families (56, six, and seven families with neonatal, infantile, and late-onset type NKH, respectively). GLDC or AMT mutations were identified in 75% of neonatal and 83% of infantile families, but not in late-onset type NKH. No GCSH mutation was identified in this study. GLDC mutations were identified in 36 families, and AMT mutations were detected in 11 families. In 16 of the 36 families with GLDC mutations, mutations were identified in only one allele despite sequencing of the entire coding regions. The GLDC gene consists of 25 exons. Seven of the 32 GLDC missense mutations were clustered in exon 19, which encodes the cofactor-binding site Lys754. A large deletion involving exon 1 of the GLDC gene was found in Caucasian, Oriental, and black families. Multiple origins of the exon 1 deletion were suggested by haplotype analysis with four GLDC polymorphisms. This study provides a comprehensive picture of the genetic background of NKH as it is known to date.

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Section: Materials and Methods Patientsmentioning

confidence: 99%

Comprehensive mutation analysis ofGLDC,AMT, andGCSHin nonketotic hyperglycinemia

et al. 2006

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“…Finally, in the lateonset form as in the present case, the clinical symptomsare apparent at adolescence. Flannery et al (1) reported that the ratio is lower in late-onset mild forrfr NKHthan in infantile or late infantile severe form NKH.Even when the serum glycine is a very high value, the CSF/serum ratio ofglycine is low in the mild form ofNKH.Since the ratio of the present case was higher than the normal range, it was possible that the glycine level in the brain of this patient was high, and it produced a very mild form of NKH.…”

Section: Discussionmentioning

confidence: 99%

“…In general, it is rare for patients with nonketotic hyperglycinemia (NKH)to survive to middle age. As far as weare aware, no patients with NKHhave been reported to survive longer than 34 years (1). We report a 38-year-old womanwith hyperglycinemia, who had complications with optic nerve atrophy and convulsion.…”

Section: Introductionmentioning

confidence: 88%

Blindness Due to Non-Ketotic Hyperglycinemia: Report of a 38-Year-Old, the Oldest Case to Date.

et al. 1993

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Wereport a 38-year-old womanwith a mild form of hyperglycinemia complicated with optic nerve atrophy and convulsion. She was normal at birth and showed normal mental and physical development. After the age of 13, her visual acuity rapidly decreased. At the age of 33, she had numerous episodes of tonic seizures lasting for 1-2 minutes. She had optic atrophy, but no intellectual impairment. Glycine levels of the plasma, urine and cerebrospinal fluid were markedly increased, but the CSF/serum glycine ratio was slightly higher than the normal range. Although there is one case of retinal impairment of hyperglycinemia in the literature, this is the first report of blindness with hyperglycinemia in a 38-year-old woman. (Internal Medicine 32: 641-642, 1993)

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“…Several sibships with two or more mildly affected children have been reported and both concordance [6,7,9,10] and discordance [1,7,13,18] of clinical outcome have been observed. The clearest example of discordance is the family described by Holmgren and Blomquist [13] in which one child was moderately retarded and hypotonic while the other was clinically normal.…”

Section: Discussionmentioning

confidence: 99%

Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect

et al. 1986

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Sisters with a mild variant of non-ketotic hyperglycinaemia resulting from a defect in the T-protein of the glycine cleavage system had different clinical outcomes. The older sister was ascertained at 6 months of age because of mental retardation. She received only brief treatment with sodium benzoate from 11-15 months and at 15 years of age is profoundly retarded and has epilepsy. The younger sister was diagnosed 36 h after birth, was treated with strychnine, sodium benzoate and arginine from the neonatal period and at 27 months of age is only moderately retarded and free of seizures. The possible role of strychnine in the improved outcome is discussed.

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Nonketotic hyperglycinemia in two retarded adults

Cited by 26 publications

References 0 publications

Comprehensive mutation analysis ofGLDC,AMT, andGCSHin nonketotic hyperglycinemia

Comprehensive mutation analysis ofGLDC,AMT, andGCSHin nonketotic hyperglycinemia

Blindness Due to Non-Ketotic Hyperglycinemia: Report of a 38-Year-Old, the Oldest Case to Date.

Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect

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