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Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises.
Kisa PT, Uzun OU, Gunduz M, Bulbul FS, Kose E, Arslan N. Kisa PT, et al. Arch Pediatr. 2021 Nov;28(8):702-706. doi: 10.1016/j.arcped.2021.09.008. Epub 2021 Oct 5. Arch Pediatr. 2021. PMID: 34620546
The patients were divided into two groups: those who had experienced metabolic crises (n=44, urea cycle defect, organic acidemia, maple syrup urine disease, hereditary fructose intolerance) and those who had not experienced previous metabolic crises (n=49; phenylketonuria, galact …
The patients were divided into two groups: those who had experienced metabolic crises (n=44, urea cycle defect, organic acidemia, maple syru …
The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype.
Van Hirtum LDFM, Van Damme T, Van Hove JLK, Steyaert JG. Van Hirtum LDFM, et al. Orphanet J Rare Dis. 2024 Apr 8;19(1):150. doi: 10.1186/s13023-024-03172-3. Orphanet J Rare Dis. 2024. PMID: 38589924 Free PMC article.
AIM: We aim to describe the behavioral phenotype of children and adolescents with the good to intermediate attenuated form of non-ketotic hyperglycinemia (NKH) and to explore associations between the behavioral phenotype and age, sex, plasma glycine levels an …
AIM: We aim to describe the behavioral phenotype of children and adolescents with the good to intermediate attenuated form of non- …
GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.
Sankaran BP, Gupta S, Tchan M, Devanapalli B, Rahman Y, Procopis P, Bhattacharya K. Sankaran BP, et al. Orphanet J Rare Dis. 2021 Nov 3;16(1):465. doi: 10.1186/s13023-021-02073-z. Orphanet J Rare Dis. 2021. PMID: 34732213 Free PMC article.
Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved in the early steps of Fe-S cluster biogenesis, are rare and cause two distinct phenotypes: isolated sideroblastic anemia and a neurological phenotype with variant non-ketotic hyperglyci …
Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved in the early steps of Fe-S cluster biogenesis, are rare and ca …
A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.
Lin Y, Zheng Z, Sun W, Fu Q. Lin Y, et al. BMC Med Genet. 2018 Jan 5;19(1):5. doi: 10.1186/s12881-017-0517-1. BMC Med Genet. 2018. PMID: 29304759 Free PMC article.
BACKGROUND: Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. ...The two variants of GLDC gene identified probably underlie the pathogenesis of non-ketotic …
BACKGROUND: Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism …
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
Farris J, Calhoun B, Alam MS, Lee S, Haldar K. Farris J, et al. PLoS Comput Biol. 2020 May 18;16(5):e1007871. doi: 10.1371/journal.pcbi.1007871. eCollection 2020 May. PLoS Comput Biol. 2020. PMID: 32421718 Free PMC article.
Loss of glycine decarboxylase (GLDC) can severely impact neurological development as seen in non-ketotic hyperglycinemia (NKH). NKH is a neuro-metabolic disorder lacking quantitative predictors of disease states. ...The resulting patient Clinical Outco …
Loss of glycine decarboxylase (GLDC) can severely impact neurological development as seen in non-ketotic hyperglycinemia …
Early myoclonic epileptic encephalopathy (E.M.E.E.).
Dalla Bernardina B, Dulac O, Fejerman N, Dravet C, Capovilla G, Bondavalli S, Colamaria V, Roger J. Dalla Bernardina B, et al. Eur J Pediatr. 1983 Jun-Jul;140(3):248-52. doi: 10.1007/BF00443371. Eur J Pediatr. 1983. PMID: 6414818
However, the electroclinical and evolutive patterns are similar to those of some metabolic diseases (Polyodystrophy, Non-Ketotic Hyperglycinemia, etc.). All these observations display a homogeneous electroclinical pattern for which the authors propose …
However, the electroclinical and evolutive patterns are similar to those of some metabolic diseases (Polyodystrophy, Non-Ketotic …
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Sherazi NA, Khan AH, Jafri L, Jamil A, Khan NA, Afroze B. Sherazi NA, et al. J Coll Physicians Surg Pak. 2017 Apr;27(4):218-221. J Coll Physicians Surg Pak. 2017. PMID: 28492150
OBJECTIVE: To determine the frequency of organic acidurais (OA) and amino acidopathies (AA) in selected high-risk patients screened in two years. STUDY DESIGN: Retrospective Observational study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital (AKUH), Karachi, …
OBJECTIVE: To determine the frequency of organic acidurais (OA) and amino acidopathies (AA) in selected high-risk patients screened in two y …
Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.
Farris J, Alam MS, Rajashekara AM, Haldar K. Farris J, et al. PLoS Genet. 2021 Feb 1;17(2):e1009307. doi: 10.1371/journal.pgen.1009307. eCollection 2021 Feb. PLoS Genet. 2021. PMID: 33524012 Free PMC article.
Hundreds of mutations in a single gene result in rare diseases, but why mutations induce severe or attenuated states remains poorly understood. Defect in glycine decarboxylase (GLDC) causes Non-ketotic Hyperglycinemia (NKH), a neurological disease associated …
Hundreds of mutations in a single gene result in rare diseases, but why mutations induce severe or attenuated states remains poorly understo …
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene.
Khraim W, Abu-Libdeh B, Ayesh S, Dweikat I. Khraim W, et al. Brain Dev. 2017 Aug;39(7):601-605. doi: 10.1016/j.braindev.2017.03.005. Epub 2017 Mar 18. Brain Dev. 2017. PMID: 28325525
INTRODUCTION: Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia (NKH), is a rare inborn error of glycine metabolism caused by a defect in glycine cleavage system, a multi-enzyme complex located in mitochondrial membrane. ...All siblings w …
INTRODUCTION: Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia (NKH), is a rare inborn error of g …
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R. Torraco A, et al. Hum Mol Genet. 2018 Aug 1;27(15):2739-2754. doi: 10.1093/hmg/ddy183. Hum Mol Genet. 2018. PMID: 29767723
Multiple mitochondrial dysfunction syndromes (MMDS) comprise a group of severe autosomal recessive diseases characterized by impaired respiration and lipoic acid metabolism, resulting in infantile-onset mitochondrial encephalopathy, non-ketotic hyperglycinemia …
Multiple mitochondrial dysfunction syndromes (MMDS) comprise a group of severe autosomal recessive diseases characterized by impaired respir …
15 results