DiseasesChemicals and Drugs
Hyperglycinemia, NonketoticHyperglycemic Hyperosmolar Nonketotic ComaAminomethyltransferaseGlycine Decarboxylase Complex H-ProteinGlycine Dehydrogenase (Decarboxylating)Amino Acid Metabolism, Inborn ErrorsGlycineDyskinesiasBrain Diseases, MetabolicChoreaBasal Ganglia Diseases
Glycine EncephalopathyClassic nonketotic hyperglycinemiaKetotic hyperglycinemiaMetabolicAutosomal recessive disorderMutationsDisordersDisorder characterized2017DevelopmentalSevereFoundationResultInfant with nonketotic hypeVariants of nonketotic hyperglycinemiaKetoticInborn error of glycine metabolismCleavageGlycine levelsGeneFindingsAciduriaDisorderCongenitalFeaturesBrainChildren
Glycine Encephalopathy4
  • Glycine encephalopathy, formerly referred to as nonketotic hyperglycinemia, is a heterogeneous disorder associated with the insufficient activity of various components of the mitochondrial glycine cleavage system. (lucasjohnfoundation.com)
  • Glycine encephalopathy is sometimes referred to as "nonketotic hyperglycinemia" (NKH), as a reference to the biochemical findings seen in patients with the disorder, and to distinguish it from the disorders that cause "ketotic hyperglycinemia" (seen in propionic acidemia and several other inherited metabolic disorders). (wikipedia.org)
  • In 2019, the Drake Rayden Foundation partnered with the Steven Gray Lab at the University of Texas Southwestern, UTSW for a two year project, to create a gene replacement therapy for the terminal, rare disease NonKetotic Hyperglycinemia, or Glycine Encephalopathy. (drakeraydenfoundation.com)
  • BACKGROUND: Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder caused by a defect in the glycine cleavage system. (omeka.net)
Classic nonketotic hyperglycinemia2
  • The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. (bvsalud.org)
  • The study's purpose was to delineate the genetic mutations that cause classic nonketotic hyperglycinemia (NKH). (bvsalud.org)
Ketotic hyperglycinemia6
  • Non-ketotic hyperglycinemia (NKH) is a rare, genetic, metabolic disorder caused by a defect in the GLDC or AMT gene code which affects the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body's tissues and fluids. (lucasjohnfoundation.com)
  • One parent related to Shelly and Rob's experience and shared his own story about the daughter he almost lost to Non- ketotic hyperglycinemia (NKH), a metabolic disorder. (georgetakei.com)
  • Her son Mason, two, was born with a rare genetic, metabolic condition NKH (Non-Ketotic Hyperglycinemia) which means his body cannot process glycine. (havenshospices.org.uk)
  • I am interested in neurometabolic diseases that causes seizures, in particular in non-ketotic hyperglycinemia. (childrenscolorado.org)
  • View my research website on non-ketotic hyperglycinemia: https://medschool.cuanschutz.edu/pediatrics/sections/genetics-and-metabolism/research/nonketotic-hyperglycinemia-(nkh)-research-lab I study disorders of cellular energetics in particular mitochondrial disorders, and fatty acid oxidation disorders. (childrenscolorado.org)
  • She was born in 2018 with a rare disease, Non-ketotic hyperglycinemia (NKH). (islarosefoundation.com)
Metabolic2
  • Metabolic acidosis and/or hyperammonemia are observed in many of these conditions, but there are notable exceptions, including nonketotic hyperglycinemia and molybdenum co-factor deficiency. (northwestern.edu)
  • Here's the kicker though - despite being chromosomally perfect our little guy inherited an incredibly rare metabolic disorder called Nonketotic Hyperglycinemia. (hopeandhopscotch.com)
Autosomal recessive disorder1
  • Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. (nih.gov)
Mutations2
  • Mutations in the GLDC or AMT gene cause nonketotic hyperglycinemia. (medlineplus.gov)
  • GLDC or AMT gene mutations that completely eliminate the system's activity result in severe nonketotic hyperglycinemia, while mutations that preserve some activity cause attenuated nonketotic hyperglycinemia. (medlineplus.gov)
Disorders1
  • Please visit my lab research web page at For nonketotic hyperglycinemia (NKH): https://medschool.cuanschutz.edu/pediatrics/sections/genetics-and-metabolism/research/nonketotic-hyperglycinemia-(nkh)-research-lab For Mitochondrial energetics disorders: https://medschool.cuanschutz.edu/pediatrics/sections/genetics-and-metabolism/research/mitochondrial-bioenergetics-disorders-lab I am interested in neurometabolic diseases that causes seizures, in particular in non-ketotic hyperglycinemia. (childrenscolorado.org)
Disorder characterized1
  • Nonketotic hyperglycinemia is a disorder characterized by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). (medlineplus.gov)
20171
  • Founded in 2017 to provide information and support to families with living with Nonketotic Hyperglycinemia (NKH). (foundationnkh.org)
Developmental2
  • Children with attenuated nonketotic hyperglycinemia typically reach developmental milestones, although the skills they achieve vary widely. (medlineplus.gov)
  • It is unclear how these abnormalities contribute to the developmental disability, seizures, breathing difficulties, and other features characteristic of nonketotic hyperglycinemia. (medlineplus.gov)
Severe3
  • Nonketotic hyperglycinemia has two forms, the severe form and the attenuated form. (medlineplus.gov)
  • Severe nonketotic hyperglycinemia is more common. (medlineplus.gov)
  • The signs and symptoms of the attenuated form of nonketotic hyperglycinemia are similar to, but milder than, those of the severe form of the condition. (medlineplus.gov)
Foundation1
  • The Drake Rayden Foundation has funded $294,016 .10 to date for T reatment D riven R esearch for children with NonKetotic Hyperglycinemia, (NKH). (drakeraydenfoundation.com)
Result1
  • It was the second tragedy to befall the family, who lost their six-year-old daughter Lyla Mae, who passed away as a result of Nonketotic Hyperglycinemia 14 months ago. (lincolnshirelive.co.uk)
Infant with nonketotic hype1
  • Acrodermatitis enteropathica-like eruption in an infant with nonketotic hyperglycinemia. (medscape.com)
Variants of nonketotic hyperglycinemia1
Ketotic8
  • Glycine encephalopathy is sometimes referred to as "nonketotic hyperglycinemia" (NKH), as a reference to the biochemical findings seen in patients with the disorder, and to distinguish it from the disorders that cause "ketotic hyperglycinemia" (seen in propionic acidemia and several other inherited metabolic disorders). (wikipedia.org)
  • Concurrent non-ketotic hyperglycinemia and propionic acidemia in an ei" by Paul Kruszka, Brian Kirmse et al. (gwu.edu)
  • This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. (gwu.edu)
  • Late onset non-ketotic hyperglycinemia - a rare presentation in children. (pakmedinet.com)
  • This structural abnormality in the H-protein is considered to constitute the primary molecular lesion in this patient with non-ketotic hyperglycinemia. (lookfordiagnosis.com)
  • Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes. (bibliome.ai)
  • It was found that Koleton had a rare metabolic disorder called Non -ketotic hyperglycinemia or NKH, which is an autosomal recessive metabolic disorder characterized by abnormally high levels of amino acid glycine. (onebrightstar.org)
  • Eleni was diagnosed with a rare metabolic condition Non ketotic Hyperglycinemia (NKH for short) NKH affects 1 child in every 76,000 born there are approximately 15 kids in the UK and 500 worldwide living with this condition. (sullivansheroes.org)
Inborn error of glycine metabolism2
  • Nonketotic hyperglycinemia (NKH) is the inborn error of glycine metabolism defined by deficient activity of the glycine cleavage enzyme system (GCS), which results in accumulation of large quantities of glycine in all body tissues including the brain. (nih.gov)
  • Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inborn error of glycine metabolism caused by defects in the glycine cleavage multi-enzyme system (GCS) (Hamosh et al. (preventiongenetics.com)
Cleavage4
  • Hyperglycinemia in the neonatal and infantile atypical NKH, similar to the classical form, is caused by a deficient glycine cleavage system, whereas the cause of hyperglycinemia in late onset atypical NKH is unknown. (nih.gov)
  • Nonketotic hyperglycinemia (NKH) is caused by deficient glycine cleavage enzyme activity and characterized by elevated brain glycine. (emory.edu)
  • Defective glycine cleavage system in nonketotic hyperglycinemia. (lookfordiagnosis.com)
  • The activities of then glycine cleavage system in the liver and brain of patient with nonketotic hyperglycinemia was extremely low as compared with those of control human liver and brain . (lookfordiagnosis.com)
Glycine levels1
  • The authors thank Drs S. Wortmann and H. Björneson who provided information on their patients with transient nonketotic hyperglycinemia or ischemic brain damage with increased CSF glycine levels. (emory.edu)
Gene1
  • Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). (nih.gov)
Findings2
  • 16. Nonketotic hyperglycinemia: spectrum of imaging findings with emphasis on diffusion-weighted imaging. (nih.gov)
  • Esphie Grace D. Fodra, Judy S. Manliguis, Cristine P. Lopez, Mary Anne D. Chiong (2016) Biochemical Findings in the first Filipino Child confirmed to have Nonketotic hyperglycinemia. (edu.ph)
Aciduria1
  • d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. (ucdenver.edu)
Disorder1
  • Nonketotic hyperglycinemia is a disorder characterized by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). (medlineplus.gov)
Congenital1
  • Perinatal asphyxia (13), tuberous sclerosis (2), cortical dysplasia (2), encephalitis (1), asphyxia due to aspiration (1), congenital cytomegalovirus infection (1), perinatal infarct (1), nonketotic hyperglycinemia (1) and Prader Willi syndrome (1) were the identified causes. (jceionline.org)
Features1
  • It is unclear how these abnormalities contribute to the developmental disability, seizures, breathing difficulties, and other features characteristic of nonketotic hyperglycinemia. (medlineplus.gov)
Brain1
  • Individuals with nonketotic hyperglycinemia can also have certain changes in the brain, which can be seen using magnetic resonance imaging (MRI). (medlineplus.gov)
Children1
  • Children with attenuated nonketotic hyperglycinemia typically reach developmental milestones, although the skills they achieve vary widely. (medlineplus.gov)