Page last updated: 2024-08-17

lysine and Metabolism, Inborn Errors

lysine has been researched along with Metabolism, Inborn Errors in 43 studies

Research

Studies (43)

Timeframe	Studies, this research(%)	All Research%
pre-1990	28 (65.12)	18.7374
1990's	5 (11.63)	18.2507
2000's	5 (11.63)	29.6817
2010's	4 (9.30)	24.3611
2020's	1 (2.33)	2.80

Authors

Authors	Studies
Ballhausen, D; Barroso, M; Braissant, O; Caterino, M; Costanzo, M; Cudalbu, C; Cudré-Cung, HP; Feichtinger, RG; Gersting, SW; Gonzalez Melo, M; Häberle, J; Mayr, JA; Poms, M; Remacle, N; Roux, C; Rüfenacht, V; Ruoppolo, M	1
Hirschey, MD; Hu, X; Huynh, FK; Johnson, JD; Lin, Z	1
Au, PB; Chung, WK; Deng, L; Devinsky, O; Ganapathi, M; Hanner, A; Karlowicz, D; LeDuc, CA; Lee, J; Mastracci, TL; McDonald, M; Mirmira, RG; Okur, V; Padgett, LR; Park, MH; Person, R; Shen, Y; Tagoe, J; Wang, J; Willaert, R; Wolf, B; Yamada, K	1
Cheng, Z; Colak, G; Dai, L; de Boer, VC; Huang, H; Liu, X; Locasale, JW; Lombard, DB; Park, J; Pougovkina, O; Tan, M; Te Brinke, H; Wan, X; Wanders, RJ; Yue, WW; Zhao, Y	1
Hennessy, M; Mayne, PD; McCarthy, P; Murphy, S; Saidha, S	1
Hoffmann, G; Loeffen, J; Smeets, R; Smeitink, J; Voit, T	1
Cavicchi, C; Dionisi-Vici, C; Donati, MA; Morrone, A; Parini, R; Pasquini, E; Poggi, GM; Zammarchi, E	1
Deschauer, M; Gellerich, FN; Gizatullina, Z; Knape, M; Knöppel, C; Pritsch, M; Schulze, A; Zierz, S	1
Brown, RR; Fischer, MH	1
Bakkeren, JA; Corstiaensen, JM; Monnens, LA; Trijbels, JM; Van Raay-Selten, AH	1
Guthrie, R; Naylor, EW; Talbot, HW	1
Goodman, SI; Markey, SP	1
Bakker, HD	1
Cordato, D; Yiannikas, C	1
Doi, H; Itoh, K; Ozand, PT; Sakuraba, H; Shimmoto, M; Takiguchi, K	1
Baumgartner, ER; Möslinger, D; Mühl, A; Plecko, B; Scheibenreiter, S; Seidl, R; Stöckler-Ipsiroglu, S; Strobl, W; Suormala, T; Tiefenthaler, M	1
Murray, J; Rucker, RB	1
Beregszászi, G; Schlammadinger, J; Szabó, B	1
Bardet, J; Kamoun, P; Parvy, P; Rabier, D	1
Baumgartner, ER; Scheibenreiter, S; Schweitzer, S; Suormala, TM; Wick, H	1
Branski, D; Christensen, E; Elpeleg, ON; Hurvitz, H	1
Bartlett, K; Chan, PW	1
Buchanan, JA; Rosenblatt, DS; Scriver, CR	1
Constantopoulos, A; Najjar, VA	1
Gardner, LI	1
Coffey, VP; Martin, MC; Moore, PT	1
Erbe, RW; Krane, SM; Pinnell, SR	1
Lapiere, CH	1
Hsia, YE	1
Benson, PF	1
Homolka, J; Hyánek, J	1
Iivanainen, M; Palo, J; Savolainen, H	1
Burgess, EA; Butler, LJ; Levin, B; Oberholzer, VG; Palmer, T	1
Colombo, JP	1
Benditt, EP; Page, RC	1
Browder, JA; Goodman, SI; Hiles, RA; Miles, ES	1
Higgins, JV; Kohrman, AF; Scott-Emuakpor, A	1
Deverson, EV; Ellory, JC; Tucker, EM	1
Steuer, W	1
Jagenburg, R; Lindstedt, G; Malmquist, J	1
Daniel, WL	1
Connelly, JF; Hocking, B; Hopkins, IJ; Maddison, TG	1
Dancis, J; Hutzler, J; Woody, NC	1

Reviews

6 review(s) available for lysine and Metabolism, Inborn Errors

Article	Year
Cross-linking amino acids in collagen and elastin. The American journal of clinical nutrition, 1978, Volume: 31, Issue:7 Topics: Amino Acid Sequence; Amino Acids; Aminopropionitrile; Animals; Chemical Phenomena; Chemistry; Collagen; Copper; Desmosine; Elastin; Humans; Hydroxylysine; Lysine; Metabolism, Inborn Errors; Nutrition Disorders; Nutritional Physiological Phenomena; Penicillamine; Protein-Lysine 6-Oxidase; Tropocollagen	1978
Genetically expressed abnormalities in the fetus. Clinical obstetrics and gynecology, 1974, Volume: 17, Issue:3 Topics: Adrenal Insufficiency; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Ammonia; Anemia, Sickle Cell; Anencephaly; Carbohydrate Metabolism, Inborn Errors; Fabry Disease; Female; Fetal Diseases; Fetus; Gangliosides; Gaucher Disease; Humans; Karyotyping; Lipid Metabolism, Inborn Errors; Lipidoses; Lysine; Metabolism, Inborn Errors; Mucopolysaccharidoses; Polyploidy; Pregnancy; Propionates; Sphingolipidoses; Turner Syndrome; Vitamin B 12	1974
The molecular basis of connective tissue pathology. The British journal of dermatology, 1973, Volume: 89, Issue:1 Topics: Animals; Basement Membrane; Cattle; Collagen; Connective Tissue; Ehlers-Danlos Syndrome; Elastin; Epidermolysis Bullosa; Fibroblasts; Glycopeptides; Humans; Keloid; Lysine; Marfan Syndrome; Metabolism, Inborn Errors; Microbial Collagenase; Mixed Function Oxygenases; Progeria; Protein Biosynthesis; Pseudoxanthoma Elasticum; Wound Healing	1973
Inherited hyperammonemic syndromes. Gastroenterology, 1974, Volume: 67, Issue:2 Topics: Acidosis; Amino Acids; Ammonia; Animals; Arginine; Brain; Brain Diseases; Chemical and Drug Induced Liver Injury; Citrulline; Dementia; Homeostasis; Humans; Infant, Newborn; Liver; Lysine; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Phosphotransferases; Succinates; Syndrome; Urea; Urease	1974
Gene derepression: possible applications to diagnosis and management of genetic disease. Guy's Hospital reports, 1973, Volume: 122, Issue:1-2 Topics: Animals; Biochemical Phenomena; Biochemistry; Carrier Proteins; Cell Differentiation; Cells, Cultured; Cricetinae; DNA; Enzyme Activation; Enzymes; Female; Fetal Diseases; Genetic Code; Genetic Diseases, Inborn; Histones; Humans; Lysine; Metabolism, Inborn Errors; Molecular Biology; Pregnancy; Prenatal Diagnosis; Proteins; RNA; Species Specificity; Subcellular Fractions	1973
Congenital disorders of the urea cycle and ammonia detoxication. Monographs in paediatrics, 1971, Volume: 1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Brain; Chromosome Aberrations; Fetus; Humans; Liver; Lysine; Metabolism, Inborn Errors; Urea	1971

Other Studies

37 other study(ies) available for lysine and Metabolism, Inborn Errors

Article	Year
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery. Molecular genetics and metabolism, 2021, Volume: 133, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Brain Diseases, Metabolic; Creatine; Disease Models, Animal; Gene Knock-In Techniques; Gliosis; Glutaryl-CoA Dehydrogenase; Humans; Lysine; Metabolism, Inborn Errors; Rats	2021
Loss of sirtuin 4 leads to elevated glucose- and leucine-stimulated insulin levels and accelerated age-induced insulin resistance in multiple murine genetic backgrounds. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:1 Topics: Age Factors; Animals; Biomarkers; Blood Glucose; Female; Genetic Predisposition to Disease; In Vitro Techniques; Insulin; Insulin Resistance; Leucine; Lipid Metabolism; Lysine; Male; Metabolism, Inborn Errors; Mice, 129 Strain; Mice, Inbred C57BL; Mice, Knockout; Mitochondrial Proteins; Phenotype; Protein Processing, Post-Translational; Sirtuins; Up-Regulation	2018
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. American journal of human genetics, 2019, 02-07, Volume: 104, Issue:2 Topics: Alleles; Amino Acid Sequence; Child; Child, Preschool; Developmental Disabilities; Eukaryotic Translation Initiation Factor 5A; Female; Genes, Recessive; Haplotypes; Humans; Lysine; Male; Metabolism, Inborn Errors; Mutation; Neurodevelopmental Disorders; Oxidoreductases Acting on CH-NH Group Donors; Pedigree; Peptide Initiation Factors; RNA-Binding Proteins; Seizures; Young Adult	2019
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation. Molecular & cellular proteomics : MCP, 2015, Volume: 14, Issue:11 Topics: Animals; Carboxy-Lyases; Cell Line; Fatty Acids; Fibroblasts; Humans; Liver; Lysine; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mice; Mice, Knockout; Mitochondria; Models, Molecular; Oxidation-Reduction; Sirtuins	2015
L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration. Journal of neurology, 2010, Volume: 257, Issue:1 Topics: Adult; Ataxia; Brain; Disease Progression; Epilepsy; Glutarates; Humans; Lysine; Male; Metabolism, Inborn Errors; Rare Diseases; Seizures	2010
Fumarase deficiency presenting with periventricular cysts. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5 Topics: Brain; Cysts; DNA Mutational Analysis; DNA, Complementary; Electroencephalography; Fatal Outcome; Female; Fumarate Hydratase; Fumarates; Heterozygote; Histidine; Humans; Infant, Newborn; Ketoglutaric Acids; Leukomalacia, Periventricular; Lysine; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Phenotype; Pyruvic Acid; Ultrasonography	2005
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6 Topics: Adult; Alleles; Child; Child, Preschool; Codon; DNA Mutational Analysis; DNA, Complementary; Female; Heterozygote; Homozygote; Humans; Infant; Italy; Lysine; Metabolism, Inborn Errors; Methylmalonyl-CoA Mutase; Mutation; Prenatal Diagnosis	2005
Molecular and biochemical investigations in fumarase deficiency. Molecular genetics and metabolism, 2006, Volume: 88, Issue:2 Topics: Amino Acid Substitution; Cell Respiration; Child, Preschool; Fatal Outcome; Fumarate Hydratase; Fumarates; Heterozygote; Humans; Infant; Infant, Newborn; Lysine; Male; Metabolism, Inborn Errors; Mitochondria; Models, Molecular; Muscle Hypotonia; Muscle, Skeletal; Mutation; Psychomotor Disorders	2006
Tryptophan and lysine metabolism in alpha-aminoadipic aciduria. American journal of medical genetics, 1980, Volume: 5, Issue:1 Topics: 2-Aminoadipic Acid; Amino Acids, Dicarboxylic; Child; Humans; Intellectual Disability; Lysine; Male; Metabolism, Inborn Errors; Tryptophan	1980
Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid. Journal of inherited metabolic disease, 1980, Volume: 2, Issue:2 Topics: Amino Acids; Brain Diseases; Humans; Infant; Kidney Diseases; Liver Diseases; Lysine; Male; Metabolism, Inborn Errors; Pipecolic Acids; Syndrome	1980
Neonatal urine screening for metabolic disease with auxotrophic strains of Bacillus subtilis. Clinica chimica acta; international journal of clinical chemistry, 1982, Mar-12, Volume: 119, Issue:3 Topics: Bacillus subtilis; Biological Assay; Homocystine; Humans; Infant, Newborn; Lysine; Metabolism, Inborn Errors; Mutation; Uracil	1982
Diagnosis of organic acidemias by gas chromatography--mass spectrometry. Laboratory and research methods in biology and medicine, 1981, Volume: 6 Topics: Acid-Base Imbalance; Gas Chromatography-Mass Spectrometry; Humans; Isoleucine; Leucine; Lysine; Metabolism, Inborn Errors; Tryptophan; Valine	1981
[Remember hereditary metabolic diseases in children in which no satisfactory diagnosis can be established]. Nederlands tijdschrift voor geneeskunde, 1993, May-08, Volume: 137, Issue:19 Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Biotinidase; Child; Child, Preschool; Coenzymes; Female; Humans; Infant, Newborn; Lysine; Male; Metabolism, Inborn Errors; Metalloproteins; Molybdenum; Molybdenum Cofactors; Multiple Carboxylase Deficiency; Pteridines	1993
Familial hyperlysinemia in a patient presenting with progressive spastic paraparesis. Neurology, 1996, Volume: 47, Issue:3 Topics: Adult; Humans; Lysine; Male; Metabolism, Inborn Errors; Paraparesis, Tropical Spastic	1996
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. Journal of human genetics, 2000, Volume: 45, Issue:4 Topics: Amino Acid Substitution; beta-Galactosidase; Blotting, Northern; Carboxypeptidases; Cathepsin A; Child; Crystallography, X-Ray; Female; Glutamic Acid; Humans; Immunohistochemistry; Lysine; Metabolism, Inborn Errors; Models, Molecular; Mutation, Missense; Neuraminidase; Protein Structure, Quaternary; White People	2000
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. European journal of pediatrics, 2001, Volume: 160, Issue:5 Topics: Adolescent; Adult; Amidohydrolases; Austria; Biotin; Biotinidase; Child; Child, Preschool; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Female; Humans; Infant; Infant, Newborn; Lysine; Male; Metabolism, Inborn Errors; Neonatal Screening; Treatment Outcome	2001
[Hyperlysinemia]. Orvosi hetilap, 1975, Dec-28, Volume: 116, Issue:52 Topics: Female; Humans; Infant; Infant, Newborn; Infant, Premature, Diseases; Lysine; Metabolism, Inborn Errors	1975
[Hyperlysinemia and hyperammonemia]. Annales de biologie clinique, 1991, Volume: 49, Issue:1 Topics: Ammonia; Female; Humans; Infant, Newborn; Lysine; Male; Metabolism, Inborn Errors; Retrospective Studies; Reye Syndrome; Urea	1991
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:1 Topics: Acids; Adolescent; Adult; Amidohydrolases; Biotin; Biotinidase; Child, Preschool; Fatty Acids; Female; Humans; Infant; Infant, Newborn; Lymphocytes; Lysine; Male; Metabolism, Inborn Errors; Multiple Carboxylase Deficiency	1990
Recurrent, familial Reye-like syndrome with a new complex amino and organic aciduria. European journal of pediatrics, 1990, Volume: 149, Issue:10 Topics: Adipates; Adolescent; Amino Acids; Female; Humans; Lysine; Male; Metabolism, Inborn Errors; Recurrence; Reye Syndrome	1990
A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency. Clinica chimica acta; international journal of clinical chemistry, 1986, Sep-15, Volume: 159, Issue:2 Topics: Amidohydrolases; Biological Assay; Biotin; Biotinidase; Clinical Laboratory Techniques; Humans; Lysine; Metabolism, Inborn Errors; Radioligand Assay	1986
Cultured human fibroblasts and plasma membrane vesicles to investigate transport function and the effects of genetic mutation. Annals of the New York Academy of Sciences, 1985, Volume: 456 Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport; Cell Membrane; Cells, Cultured; Diffusion; Electrochemistry; Fibroblasts; Folic Acid; Humans; Lysine; Membrane Potentials; Metabolism, Inborn Errors; Mutation; Potassium; Tetrahydrofolates	1985
A new phagocytosis-stimulating tetrapeptide hormone, tuftsin, and its role in disease. Journal of the Reticuloendothelial Society, 1972, Volume: 12, Issue:2 Topics: Adolescent; Animals; Arginine; Child, Preschool; Complement System Proteins; Dogs; Female; gamma-Globulins; Guinea Pigs; Humans; Immunoglobulin Fragments; Infant, Newborn; Leukocytes; Lysine; Male; Metabolism, Inborn Errors; Oligopeptides; Phagocytosis; Proline; Splenectomy; Splenic Diseases; Staphylococcal Infections; Staphylococcus; Streptococcal Infections; Threonine; Trypsin	1972
Screening for biochemical abnormalities in the urine of the mentally handicapped in Dublin. Journal of mental deficiency research, 1972, Volume: 16, Issue:2 Topics: Adolescent; Adult; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cystinuria; Female; Glycine; Glycosaminoglycans; Glycosuria; Homocystinuria; Hospitals, Psychiatric; Humans; Indoles; Infant; Intellectual Disability; Ireland; Lysine; Male; Metabolism, Inborn Errors; Phenylketonurias; Polysaccharides; Proteinuria; Succinates	1972
Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen. Proceedings of the National Academy of Sciences of the United States of America, 1972, Volume: 69, Issue:10 Topics: Adolescent; Adult; Amino Acids; Cells, Cultured; Child; Collagen; Consanguinity; Ehlers-Danlos Syndrome; Female; Fibroblasts; Humans; Hydrogen-Ion Concentration; Hydroxylysine; L-Lactate Dehydrogenase; Lysine; Male; Metabolism, Inborn Errors; Methyltransferases; Mixed Function Oxygenases; Procollagen-Proline Dioxygenase; Proline; Protein Precursors; Serine; Skin; Time Factors	1972
The results of chromatographic screening for the detection of inborn metabolic errors in normal and mentally retarded population. Acta Universitatis Carolinae. Medica. Monographia, 1973, Volume: 56 Topics: Adolescent; Adult; Amino Acids, Sulfur; Child; Child, Preschool; Chromatography; Cystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Lysine; Metabolism, Inborn Errors; Phenylketonurias	1973
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study. Journal of mental deficiency research, 1973, Volume: 17, Issue:2 Topics: Adolescent; Adult; Alanine; Amino Acids; Arginine; Carbohydrates; Child; Child, Preschool; Chromatography, Thin Layer; Cystine; Epilepsy; Female; Glutamates; Glutamine; Humans; Intellectual Disability; Intelligence Tests; Isoleucine; Leucine; Lysine; Male; Metabolism, Inborn Errors; Methionine; Middle Aged; Ornithine; Phenylalanine; Pneumoencephalography; Threonine; Valine	1973
Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families. Archives of disease in childhood, 1974, Volume: 49, Issue:6 Topics: Alanine; Ammonia; Arginine; Child, Preschool; Citrulline; Female; Genes, Dominant; Genetic Linkage; Glutamates; Glutamine; Glycine; Humans; Leucine; Liver; Lysine; Male; Metabolism, Inborn Errors; Ornithine; Ornithine Carbamoyltransferase; Sex Chromosomes	1974
Diseases of connective and vascular tissues. IV. The molecular basis for lathyrism. Laboratory investigation; a journal of technical methods and pathology, 1972, Volume: 26, Issue:1 Topics: Acetaldehyde; Amino Acid Oxidoreductases; Aminopropionitrile; Animals; Carbon Isotopes; Collagen; Collagen Diseases; Cyanides; Elastin; Lathyrism; Lysine; Metabolism, Inborn Errors; Protein Binding; Protein Denaturation; Rats	1972
Hydroxylysinemia; a disorder due to a defect in the metabolism of free hydroxylysine. Biochemical medicine, 1972, Volume: 6, Issue:4 Topics: Amino Acids; Child, Preschool; Chromatography, Paper; Collagen; Diet Therapy; Female; Humans; Hydroxylysine; Hydroxyproline; Kidney; Lysine; Metabolism, Inborn Errors; Stereoisomerism	1972
Citrullinemia: a new case, with implications concerning adaptation to defective urea synthesis. Pediatric research, 1972, Volume: 6, Issue:7 Topics: Adult; Amino Acids; Ammonia; Citrulline; Dietary Proteins; Fibroblasts; Humans; Intellectual Disability; Ligases; Lysine; Male; Metabolism, Inborn Errors; Urea	1972
The identification of ornithine and lysine at high concentrations in the red cells of sheep with an inherited deficiency of glutathione. Biochimica et biophysica acta, 1972, Oct-25, Volume: 279, Issue:3 Topics: Amino Acids; Animals; Erythrocytes; Glutathione; Lysine; Metabolism, Inborn Errors; Ornithine; Oxidation-Reduction; Potassium; Sheep; Sodium; Species Specificity	1972
[Early diagnosis of congenital metabolic diseases]. Minerva medica, 1971, Nov-03, Volume: 62, Issue:83 Topics: Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant, Newborn; Leucine; Lipoproteins; Lysine; Metabolism, Inborn Errors; Phenylketonurias; Time Factors; Valine	1971
Familial protein intolerance. Possible nature of enzyme defect. The New England journal of medicine, 1971, May-06, Volume: 284, Issue:18 Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Biological Transport; Blood Cell Count; Blood Glucose; Blood Urea Nitrogen; Bone Diseases; Brain Diseases; Dietary Proteins; Female; Glutaminase; Glutamine; Hemoglobins; Humans; Intellectual Disability; Kidney; Kidney Function Tests; Lysine; Metabolism, Inborn Errors; Nitrogen; Proteins; Specific Gravity; Urea; Urine	1971
A genetic and biochemical investigation of primary microcephaly. American journal of mental deficiency, 1971, Volume: 75, Issue:6 Topics: Adult; Blood Proteins; Chromosome Aberrations; Chromosomes, Human, 1-3; Chromosomes, Human, 16-18; Female; Humans; Leucine; Lysine; Male; Metabolism, Inborn Errors; Microcephaly; Pregnancy; Proteins	1971
Neurological abnormalities in primary hyperammonaemia. Proceedings of the Australian Association of Neurologists, 1968, Volume: 5, Issue:1 Topics: Ammonia; Diet Therapy; Dietary Proteins; Female; Humans; Infant; Intellectual Disability; Lysine; Metabolism, Inborn Errors; Nervous System Diseases; Urea	1968
Further studies of hyperlysinemia. American journal of diseases of children (1960), 1966, Volume: 112, Issue:6 Topics: Carbon Dioxide; Carbon Isotopes; Child; Child, Preschool; Female; Humans; Lysine; Metabolism, Inborn Errors	1966