", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage ... ", "Argininosuccinic aciduria", "Argininemia", "Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome", "HHH syndrome". 54. ... ", "Acid sphingomyelinase deficiency", "ASMD", "Niemann-Pick disease type C", "Niemann-Pick type C", "NPD-C", "NPC", "GM1- ... ", "Infantile sialic acid storage disease", "ISSD", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis" ...
AMINO-ACID N-ACETYLTRANSFERASE, SCN7A, NBAS, NAGLU. Hyperammonemia, Type Iii Bioinformatics Tool. Laverne is a handy ...
... metabolism of the branched chain amino acid leucine, results in the inability to break ... in the metabolism of the branched chain amino acid leucine, results in the inability to break down isovaleric acid and the ... Argininosuccinic Aciduria. * Beta-Ketothiolase Deficiency (BKD). * Biotinidase Deficiency. * CACT & CPT II Deficiencies ... Follow-up testing may include quantitative plasma acylcarnitine profile, urine organic acids, and urine acylglycine analysis. ...
Adrenoleukodystrophy (ALD) Argininemia Argininosuccinic Aciduria Beta-Ketothiolase Deficiency (BKD) Biotinidase Deficiency CACT ... E72.8, Other specified disorders of amino-acid metabolism. Disorder Category Amino acidemia ...
An inherited disorder in which the body cannot process a particular protein building block (amino acid) called Methionine. It ...
Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... In particular, individuals with conditions that cause elevated levels of lactic acid in the blood, such as lactic acidemia, are ... Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in ...
The drugs Zoledronic acid and Cholecalciferol have been mentioned in the context of this disorder. Affiliated tissues include ... Argininosuccinic Aciduria , Gallstones , Chronic Mucocutaneous Candidiasis , Vertebrobasilar Insufficiency , Syphilis , ... Lysosomal Acid Lipase Deficiency , Vitamin A Deficiency , COACH Syndrome , Spinal And Bulbar Muscular Atrophy , Malonyl-CoA ... Aromatic L-amino Acid Decarboxylase Deficiency , Pituitary Disorders , Smoldering Myeloma , Vaginitis , Stargardt Disease , ...
Under normal conditions, SSADH works with the enzyme GABA transaminase to convert GABA to succinic acid. Succinic acid can then ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... accumulates and cannot be oxidized to succinic acid and is therefore reduced to gamma-hydroxybutyric acid (GHB) by gamma- ... Taurine is a non-protein sulfur amino acid that is found in high concentrations in human milk. It has been shown to have ...
Quantitative plasma amino acid analysis, urine organic acid analysis. Quantitative succinyl acetone may be advised to ... Adrenoleukodystrophy (ALD) Argininemia Argininosuccinic Aciduria Beta-Ketothiolase Deficiency (BKD) Biotinidase Deficiency CACT ... Tyrosinemia type I is caused by a deficiency of fumarylacetoacetase (FAH), one of the last enzymes in aromatic amino acid ... Treatment consists of a diet low in the protein-derived amino acids tyrosine and phenylalanine, and nitisinone (NTBC), a ...
Fatty Acid Oxidation and Ketone Disorders *VLCAD. *Trifunctional Protein Deficiency (TFP). *LCHAD ...
Acid maltase deficiency. Ackerman syndrome. Acne. Acne rosacea. Acoustic neuroma. Acquired ichthyosis. Acquired syphilis. ... Argininosuccinic aciduria. Argyria. Arnold-Chiari malformation. Arrhythmogenic right.... Arteriovenous malformation. Arteritis ... which resulted in a change from amino acid Asp256 to Val256, and a transversion from CCC to CAC in exon V of the codon for ... most of which are differentiated by a change in one polypeptide chain amino acid and denominated according to their mobility in ...
Acid maltase deficiency. Ackerman syndrome. Acne. Acne rosacea. Acoustic neuroma. Acquired ichthyosis. Acquired syphilis. ... Argininosuccinic aciduria. Argyria. Arnold-Chiari malformation. Arrhythmogenic right.... Arteriovenous malformation. Arteritis ...
Lysosomal Acid Lipase Deficiency. *Methylmalonic Acidemia, CblA Type. *Methylmalonic Acidemia, CblB Type ... Argininosuccinic Aciduria. *ARSACS. *Aspartylglycosaminuria. *Ataxia With Vitamin E Deficiency. *Ataxia-telangiectasia. * ...
Lysosomal Acid Lipase Deficiency. *Methylmalonic Acidemia, CblA Type. *Methylmalonic Acidemia, CblB Type ... Argininosuccinic Aciduria. *ARSACS. *Aspartylglycosaminuria. *Ataxia With Vitamin E Deficiency. *Ataxia-telangiectasia. * ...
Lysosomal Acid Lipase Deficiency. *Methylmalonic Acidemia, CblA Type. *Methylmalonic Acidemia, CblB Type ... Argininosuccinic Aciduria. *ARSACS. *Aspartylglycosaminuria. *Ataxia With Vitamin E Deficiency. *Ataxia-telangiectasia. * ...
Lysosomal Acid Lipase Deficiency. *Methylmalonic Acidemia, CblA Type. *Methylmalonic Acidemia, CblB Type ... Argininosuccinic Aciduria. *ARSACS. *Aspartylglycosaminuria. *Ataxia With Vitamin E Deficiency. *Ataxia-telangiectasia. * ...
Lysosomal Acid Lipase Deficiency. *Methylmalonic Acidemia, CblA Type. *Methylmalonic Acidemia, CblB Type ... Argininosuccinic Aciduria. *ARSACS. *Aspartylglycosaminuria. *Ataxia With Vitamin E Deficiency. *Ataxia-telangiectasia. * ...
5-chloro-1H-indole-2-butanoic acid, EMA/OD/072/15 3-pentylbenzeneacetic acid sodium salt, EMA/OD/046/16 3-[4-(1Himidazol-1- ... Treatment of argininosuccinic aciduria EMA/OD/004/10, EU/3/10/736 d) Treatment of hyperargininaemia EMA/OD/005/10, EU/3/10/737 ... EMA/OD/067/16 Zoledronic acid, EMA/OD/085/16 Temozolomide, EMA/OD/068/17 Picropodophyllin, EMA/OD/215/16 5-aminolevulinic acid ... Jul 16, 2018 - Cladribine, EMA/OD/087/17 Recombinant monoclonal antibody to sialic acid-binding Ig-like lectin 8. 2.2.6. - EMA/ ...
Aspartic Acid Proteases. Ácido Aspártico Proteases. Proteasas de Ácido Aspártico. Axonemal Dyneins. Dineínas do Axonema. ... Argininosuccinic Aciduria. Acidúria Argininossuccínica. Aciduria Argininosuccínica. Cogan Syndrome. Síndrome de Cogan. Síndrome ... D12 - Amino Acids, Peptides, and Proteins. ARNTL Transcription Factors. Fatores de Transcrição ARNTL. Factores de Transcripción ... Argininosuccinic Aciduria. Acidúria Argininossuccínica. Aciduria Argininosuccínica. Barth Syndrome. Síndrome de Barth. Síndrome ...
Aspartic Acid Proteases. Ácido Aspártico Proteases. Proteasas de Ácido Aspártico. Axonemal Dyneins. Dineínas do Axonema. ... Argininosuccinic Aciduria. Acidúria Argininossuccínica. Aciduria Argininosuccínica. Cogan Syndrome. Síndrome de Cogan. Síndrome ... D12 - Amino Acids, Peptides, and Proteins. ARNTL Transcription Factors. Fatores de Transcrição ARNTL. Factores de Transcripción ... Argininosuccinic Aciduria. Acidúria Argininossuccínica. Aciduria Argininosuccínica. Barth Syndrome. Síndrome de Barth. Síndrome ...
Fatty Acid Oxidation Disorders (FAQ). * Fetal Alcohol Spectrum Disorders (FAQ). * Foster Care (FAQ) ... Argininosuccinic Aciduria. * Beta-Ketothiolase Deficiency (BKD). * Biotinidase Deficiency. * CACT & CPT II Deficiencies ...
Argininosuccinic Aciduria. Aciduria Argininosuccínica. Afasia Primária Progressiva Não-Fluente. Primary Progressive Nonfluent ... Aspartic Acid Proteases. Proteasas de Ácido Aspártico. D09 - Carboidratos. Prebióticos. Prebiotics. Prebióticos. ... Argininosuccinic Aciduria. Aciduria Argininosuccínica. Afasia Primária Progressiva Não-Fluente. Primary Progressive Nonfluent ...
ARGININOSUCCINIC ACIDURIA. 207900. 28. ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY. 208000. 6. ARTERIOVENOUS FISTULAS. ... Nucleic Acid Isolation and Quality Control * Customized Experimental Design and Research Solutions * Biomarkers ...
An inherited disorder that causes the amino acid arginine and ammonia to accumulate gradually in the blood. Ammonia, which is ...
"Dietary Reference Intakes for Energy, Carbohydrates, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids. Washington ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... The fact that CGMP is a peptide ensures that the absorption rate of its amino acids is prolonged compared to free amino acids ... The enzyme phenylalanine hydroxylase normally converts the amino acid phenylalanine into the amino acid tyrosine. If this ...
Adrenoleukodystrophy (ALD) Argininemia Argininosuccinic Aciduria Beta-Ketothiolase Deficiency (BKD) Biotinidase Deficiency CACT ... ALD is characterized by accumulation of very long-chain fatty acids (VLCFAs) primarily affecting the adrenal cortex and white ...
Congenital Bile Acid Synthesis Defect , Glioblastoma Multiforme , Muckle-Wells Syndrome , Rubeosis Iridis , Myelodysplasia , ... Argininosuccinic Aciduria , Chiari Malformation Type I , Optic Nerve Hypoplasia, Bilateral , Myositis , Vasculitis , Nemaline ...
Prostacyclin evidence that intramolecular general acid catalysis by its carboxylic acid group is responsible for the extra ... Donn, S.M.; Thoene, J.G. 1985: Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine ... Detitta, G.T.; Langs, D.A.; Edmonds, J.W.; Duax, W.L. 1980: Prostadienoic acids prostaglandin e 2 and prostaglandin f 2 beta ... Khan, O.; Hensby, C.N.; Williams, G. 1982: Prostacyclin in prostatic cancer: a better marker than bone scan or serum acid ...
Acid maltase deficiency. Ackerman syndrome. Acne. Acne rosacea. Acoustic neuroma. Acquired ichthyosis. Acquired syphilis. ... Argininosuccinic aciduria. Argyria. Arnold-Chiari malformation. Arrhythmogenic right.... Arteriovenous malformation. Arteritis ...
Lysosomal Acid Lipase Deficiency. *MKS1-related Disorders. *Mucolipidosis III Gamma. *Mucopolysaccharidosis Type IIIA ... Argininosuccinic Aciduria. *ARSACS. *Aspartylglycosaminuria. *Ataxia With Vitamin E Deficiency. *Ataxia-telangiectasia. * ...
Lysosomal Acid Lipase Deficiency. *Methylmalonic Acidemia, CblA Type. *Methylmalonic Acidemia, CblB Type ... Argininosuccinic Aciduria. *ARSACS. *Aspartylglycosaminuria. *Ataxia With Vitamin E Deficiency. *Ataxia-telangiectasia. * ...
Lysosomal Acid Lipase Deficiency. *Methylmalonic Acidemia, CblA Type. *Methylmalonic Acidemia, CblB Type ... Argininosuccinic Aciduria. *ARSACS. *Aspartylglycosaminuria. *Ataxia With Vitamin E Deficiency. *Ataxia-telangiectasia. * ...
tricarboxylic acid cycle, defect of [NCBI] 0.00296772 saccharopinuria [NCBI] 0.00202368 TYMS [NCBI] 0.000522159 ... argininosuccinic aciduria [NCBI] 6.77303e-05 methylmalonic aciduria and homocystinuria, cblc type [NCBI] 6.67143e-05 ehlers- ...
Argininosuccinic Aciduria. Aciduria Argininosuccínica. Afasia Primária Progressiva Não-Fluente. Primary Progressive Nonfluent ... Aspartic Acid Proteases. Proteasas de Ácido Aspártico. D09 - Carboidratos. Prebióticos. Prebiotics. Prebióticos. ... Argininosuccinic Aciduria. Aciduria Argininosuccínica. Afasia Primária Progressiva Não-Fluente. Primary Progressive Nonfluent ...