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Urea cycle
...to the relatively nontoxic excretion product urea at the cost of four "high-energy" phosphate bonds (3 ATP hydrolyzed to 2 ADP and one AMP). ...on of ammonia and bicarbonate to form carbamoyl phosphate. This is the rate-limiting step of the urea cycle. The reaction requires two molecules of ATP,

3 KB (442 words) - 18:18, 25 February 2024
Carbamoyl phosphate synthetase 1 deficiency
...atment is based on the symptoms. Seizures can be treated with specific anti-seizure medications. In severe cases, [[liver transplant]] may be an option. The medication(s) listed below have been approved by the Food and Drug Administration (FDA)

6 KB (912 words) - 14:29, 27 April 2021
N-Acetylglutamate synthase deficiency
| name = N-Acetylglutamate synthase deficiency | image = N-AcetylglutamicAcid.png

5 KB (581 words) - 01:02, 23 February 2024
Sofosbuvir, velpatasvir and voxilaprevir
...3,4-dihydropyrimidin-1(2H)-yl)-4-fluoro-3-hydroxy-4-methyltetrahydrofuran-2-yl)methoxy)-(phenoxy)phosphorylamino)propanoate'' ...]imidazol-9-yl}-1H-imidazol-2-yl)-4-(methoxymethyl)pyrrolidin-1-yl]-2-oxo-1-phenylethyl}carbamate''

6 KB (842 words) - 18:27, 24 July 2021
Urea cycle disorders
One cofactor-producing enzyme: * N-acetyl glutamate synthetase (NAGS)

7 KB (1,044 words) - 10:21, 23 July 2020
List of rare metabolic disorders
* '''[[17-alpha-hydroxylase deficiency]]''' * '''[[17-beta hydroxysteroid dehydrogenase 3 deficiency]]'''

22 KB (2,804 words) - 22:50, 18 September 2019
Carglumic acid
...f acute [[hyperammonemia]] due to [[N-acetylglutamate synthase deficiency|N-acetylglutamate synthase]] (NAGS) deficiency. ...metabolite that activates the enzyme carbamoyl phosphate synthetase I (CPS-1), the first step in the [[urea cycle]] which is responsible for removal an

8 KB (1,108 words) - 13:32, 22 December 2022
Ornithine transcarbamylase deficiency
...{{cite web|url=https://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency|title=Ornithing transcarbamylase deficiency |date=22 May 2018 |ac ...nd [[ornithine]] into [[citrulline]]. OTC deficiency is inherited in an [[X-linked recessive]] manner, meaning males are more commonly affected than fem

15 KB (1,976 words) - 17:13, 22 February 2024
Metabolic disorders
...disorders''' encompass a broad range of conditions resulting from the body's inability to process certain nutrients and chemicals due to enzyme deficien ...sorders''': Conditions arising from defects in the mitochondria, the energy-producing parts of cells. Examples are:

26 KB (3,173 words) - 19:37, 20 September 2023
Inborn errors of metabolism
...iency, carnitine palmitoyl transferase 1 deficiency, long chain hydroxyacyl-CoA dehydrogenase deficiency ...ell as it should. Most often these altered genes are inherited from parent(s), but they may also occur spontaneously.

6 KB (887 words) - 15:43, 8 July 2020
List of diseases (O)
This is a list of [[disease]]s starting with the letter "O". * [[Ocular coloboma-imperforate anus]]

10 KB (900 words) - 04:30, 4 October 2019
Genetic disorder
...d from one or both parents or can occur spontaneously during an individual's life. The genes carry instructions that guide the growth, development, and ...les include [[sickle cell disease]], [[cystic fibrosis]], and [[Huntington's disease]].

22 KB (2,005 words) - 02:46, 12 September 2023
List of diseases (C)
This is a list of [[disease]]s starting with the letter "C". * [[Caffeine-induced sleep disorder]]

40 KB (3,786 words) - 04:19, 20 April 2020
Genetic diseases-C
...'' see '''[https://ghr.nlm.nih.gov/condition/bohring-opitz-syndrome Bohring-Opitz syndrome]''' ...ibitor deficiency]]''' see '''[https://ghr.nlm.nih.gov/condition/hereditary-angioedema Hereditary angioedema]'''

114 KB (14,485 words) - 20:56, 18 March 2024
Rare diseases
...disease usually is an estimate and may change over time. Inclusion in GARD's list does not serve as official recognition by the NIH as a rare disease an ...A-approved treatments, and many drugs used to treat these diseases are "off-label" or used without FDA approval. This can make it difficult for patients

27 KB (3,296 words) - 03:40, 12 January 2023
List of human genes
* '''[https://ghr.nlm.nih.gov/gene/AASS AASS]''': aminoadipate-semialdehyde synthase * '''[https://ghr.nlm.nih.gov/gene/ABAT ABAT]''': 4-aminobutyrate aminotransferase

121 KB (20,808 words) - 02:03, 14 March 2024
List of FDA approved indirect food additives
* [[2-acetamidoethanol]] * [[N-acetyl-n-(2-hydroxyethyl)-n'-oleoylethylenediamine]]

134 KB (11,253 words) - 21:51, 24 December 2022
MeSH C
* '''[[C-Peptide]]''' * '''[[C-Reactive Protein]]'''

97 KB (12,845 words) - 03:43, 10 March 2024
List of ingredients in household products
* '''[[A-17 Propellant]]''' ...ium salt (1:1), reaction products with 4,5-dihydro-2-undecyl-1H-imidazole-1-ethanol and sodium hydrox]]'''

175 KB (22,888 words) - 17:43, 19 March 2024
Antineoplastic agents l
...majority of solid tumors. Upon internalization and proteolytic cleavage, SN-38, the active metabolite of irinotecan, inhibits the activity of topoisomer ...f the KIR family, is specifically expressed in most subtypes of cutaneous T-cell lymphomas (CTCL) and expressed only on a fraction of normal NK cells.

127 KB (17,614 words) - 01:34, 19 March 2024