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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 12720 hyperglycinemia, nonketotic I Eponyms: Inheritance: GCE GCSP GLDC glycine cleavage enzyme deficiency glycine encephalopathy HYGN1 NKH1 autosomal recessive Semeiological Metabolic-neurological disorder. Early infancy onset; hypotonia, severe mental retardation, myoclonia, seizures, lethargy, hiccough; hyperglycinemia due to defect in enzyme of the glycine-cleavage system Synthesis: different from NKH2 and NKH3. Defect in P protein. Group Sub group Signs: LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 16q localization chromosome 3p localization chromosome 9p localization foetal-amniotic biochemical data glycine cleavage (foetal) glycine/serine ratio modified data (foetal) gene, structural-functional anomalies gene analysis-DNA analysis GLDC (HYGN1) GCSP) (GCE) (NKH), gene chr.9p22 mitochondrial glycine cleavage system (GCS) component T (GCST, T-protein), gene chr.3p21.2-p21.1 plasma nonprotein-organic constituents, anomalies amino acid disorders Aminoacidemia, neutral diabetes mellitus in syndromic association glycine, high levels hyperglycinemia neutral aliphatic aminoacids Leu,Val,Ileu,Gly,Ala,Ser,Thr tissue, biochemical changes GCSH (NKH), gene chr.16q24 lethality, in metabolic/immunological/environmental disorders mitochondrial glycine cleavage system (GCS) component P (GCSP, P-protein), (HYGN1) (GLDC) glycine dehydrogenase, low activity mitochondrial glycine cleavage system (GCS) component T (GCST, T-protein), low activity MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy NEUROLOGICAL DISORDERS basal ganglia, disorders myoclonus, including jerks brain anomalies corpus callosum, agenesis mental retardation mental retardation neurological dysfunctions hyperglycinemia, nonketotic I Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database seizures, convulsions, epilepsy performance changes, not including mental retardation speech dyspraxia, including speech delayed stupor, lethargy, including coma OTHERS inheritance inheritance, autosomal recessive PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic prenatal diagnosis, metabolic Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: foetal changes, recognized by ultrasound techniques LETHALITY lethality, in metabolic/immunological/environmental disorders METABOLIC DISORDERS amino acid disorders OTHER diabetes, mellitus in syndromic association Differential diagnosis: Bibliography hyperglycinemia, nonketotic I 6976 6975 10930 10780 12577 12710 12721 12722 D-glycericacidemia late onset D-glycericacidemia neonatal form d-glycericaciduria glucoglycinuria hydroxyisobutyryl-CoA deacylase deficiency hyperglycinemia, ketotic I hyperglycinemia, nonketotic II hyperglycinemia, nonketotic III OMIM ID: 238300 OMIM ID: 605899 Prenat.Diagn.19,717-720,1999 OMIM ID: 238331 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 444 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.21692170,2007 Page 2 of 2
