カルバモイルリン酸合成酵素欠損症
WordNet
- a salt of phosphoric acid (同)orthophosphate, inorganic_phosphate
- carbonated drink with fruit syrup and a little phosphoric acid
PrepTutorEJDIC
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
- 〈U〉リン酸塩 / 《複数形で》リン酸肥料
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2018/07/19 19:51:14」(JST)
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| Ornithine translocase deficiency |
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| Synonyms |
HHH syndrome, ORNT1 deficiency, ornithine carrier deficiency, triple H syndrome |
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Ornithine |
Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome,[1] is a rare autosomal recessive[2] urea cycle disorder affecting the enzyme ornithine translocase, which causes ammonia to accumulate in the blood, a condition called hyperammonemia.
Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
Contents
- 1 Pathophysiology
- 2 Diagnosis
- 3 Treatment
- 4 See also
- 5 References
- 6 Further reading
- 7 External links
Pathophysiology
Ornithine translocase deficiency has an autosomal recessive pattern of inheritance.
Mutations in the SLC25A15 gene cause ornithine translocase deficiency. Ornithine translocase deficiency belongs to a class of metabolic disorders referred to as urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. The SLC25A15 gene provides instructions for making a protein called a mitochondrial ornithine transporter. This protein is needed to move a molecule called ornithine within the mitochondria (the energy-producing centers in cells). Specifically, this protein transports ornithine across the inner membrane of mitochondria to the region called the mitochondrial matrix, where it participates in the urea cycle. Mutations in the SLC25A15 gene result in a mitochondrial ornithine transporter that is unstable or the wrong shape, and which cannot bring ornithine to the mitochondrial matrix. This failure of ornithine transport causes an interruption of the urea cycle and the accumulation of ammonia, resulting in the signs and symptoms of ornithine translocase deficiency.
This disorder is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
Diagnosis
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Treatment
Treatments include discontinuation of protein intake, intravenous infusion of glucose and, as needed, infusion of supplemental arginine and the ammonia removal drugs, sodium phenylacetate and sodium benzoate.
See also
- Ornithine transcarbamylase deficiency
- Inborn errors of metabolism
- Ornithine aminotransferase deficiency (gyrate atrophy of the choroid and retina)
References
- ^ Online Mendelian Inheritance in Man (OMIM) 238970
- ^ Hommes FA, Roesel RA, Metoki K, Hartlage PL, Dyken PR (Feb 1986). "Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria)". Neuropediatrics. 17 (1): 48–52. doi:10.1055/s-2008-1052499. ISSN 0174-304X. PMID 3960284.
- Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (accessed 2007). New York: McGraw-Hill. Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog.
Further reading
- Ornithine translocase deficiency at NLM Genetics Home Reference
- For a thorough scientific overview of hyperornithinemias, see chapter 83 of The Online Metabolic and Molecular Bases of Inherited Disease.
External links
| Classification |
D - ICD-9-CM: 270.6
- OMIM: 238970
- DiseasesDB: 29849
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| External resources |
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Inborn error of amino acid metabolism (E70–E72, 270) |
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| K→acetyl-CoA | | Lysine/straight chain |
- Glutaric acidemia type 1
- type 2
- Hyperlysinemia
- Pipecolic acidemia
- Saccharopinuria
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| Leucine |
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-Methylglutaconic aciduria 1
- Isovaleric acidemia
- Maple syrup urine disease
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| Tryptophan | |
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| G | | G→pyruvate→citrate | | Glycine |
- D-Glyceric acidemia
- Glutathione synthetase deficiency
- Sarcosinemia
- Glycine→Creatine: GAMT deficiency
- Glycine encephalopathy
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G→glutamate→
α-ketoglutarate | | Histidine |
- Carnosinemia
- Histidinemia
- Urocanic aciduria
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| Proline |
- Hyperprolinemia
- Prolidase deficiency
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| Glutamate/glutamine | |
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G→propionyl-CoA→
succinyl-CoA | | Valine |
- Hypervalinemia
- Isobutyryl-CoA dehydrogenase deficiency
- Maple syrup urine disease
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| Isoleucine |
- 2-Methylbutyryl-CoA dehydrogenase deficiency
- Beta-ketothiolase deficiency
- Maple syrup urine disease
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| Methionine |
- Cystathioninuria
- Homocystinuria
- Hypermethioninemia
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| General BC/OA |
- Methylmalonic acidemia
- Methylmalonyl-CoA mutase deficiency
- Propionic acidemia
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| G→fumarate | | Phenylalanine/tyrosine | | Phenylketonuria |
- 6-Pyruvoyltetrahydropterin synthase deficiency
- Tetrahydrobiopterin deficiency
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| Tyrosinemia |
- Alkaptonuria/Ochronosis
- Type I tyrosinemia
- Type II tyrosinemia
- Type III tyrosinemia/Hawkinsinuria
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| Tyrosine→Melanin |
- Albinism: Ocular albinism (1)
- Oculocutaneous albinism (Hermansky–Pudlak syndrome)
- Waardenburg syndrome
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| Tyrosine→Norepinephrine |
- Dopamine beta hydroxylase deficiency
- reverse: Brunner syndrome
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| G→oxaloacetate | Urea cycle/Hyperammonemia
(arginine
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Argininemia
Argininosuccinic aciduria
Carbamoyl phosphate synthetase I deficiency
Citrullinemia
N-Acetylglutamate synthase deficiency
Ornithine transcarbamylase deficiency/translocase deficiency
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Transport/
IE of RTT |
- Solute carrier family: Cystinuria
- Hartnup disease
- Iminoglycinuria
- Lysinuric protein intolerance
- Fanconi syndrome: Oculocerebrorenal syndrome
- Cystinosis
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| Other |
- 2-Hydroxyglutaric aciduria
- Aminoacylase 1 deficiency
- Ethylmalonic encephalopathy
- Fumarase deficiency
- Trimethylaminuria
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UpToDate Contents
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English Journal
- Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.
- Zhang G1, Chen Y2,3, Ju H1, Bei F1, Li J1, Wang J2, Sun J1, Bu J1.
- Journal of clinical laboratory analysis.J Clin Lab Anal.2017 Apr 26. doi: 10.1002/jcla.22241. [Epub ahead of print]
- PMID 28444906
- Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
- Diez-Fernandez C1, Häberle J1.
- Expert opinion on therapeutic targets.Expert Opin Ther Targets.2017 Apr;21(4):391-399. doi: 10.1080/14728222.2017.1294685. Epub 2017 Feb 20.
- PMID 28281899
- Citrulline for urea cycle disorders in Japan.
- Tanaka K1, Nakamura K1, Matsumoto S1, Kido J1, Mitsubuchi H1, Ohura T2, Endo F1.
- Pediatrics international : official journal of the Japan Pediatric Society.Pediatr Int.2017 Apr;59(4):422-426. doi: 10.1111/ped.13163. Epub 2016 Dec 22.
- PMID 27613354
Japanese Journal
- 臨床研究・症例報告 フェニル酪酸ナトリウム投与により蛋白耐容量が増加したカルバミルリン酸合成酵素Ⅰ欠損症の新生児例 (内分泌代謝)
- Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency
Related Links
- Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic ...
- Carbamoyl phosphate synthetase (CPS) deficiency is a urea cycle defect that results from a deficiency in an enzyme that mediates the normal path for incorporation of ammonia. CPS is derived from catabolism of amino ...
★リンクテーブル★
[★]
- 英
- carbamoyl-phosphate synthetase deficiency, carbamoyl phosphate synthetase deficiency, CPS deficiency
- 同
- CPS欠損症、カルバミルリン酸合成酵素欠損症？、carbamyl phosphate synthetase deficiency？、carbamyl-phosphate synthetase deficiency？
- 関
- カルバモイルリン酸
[★]
カルバモイルリン酸合成酵素欠損症
[★]
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
[★]
- 関
- inorganic phosphate、orthophosphate、orthophosphoric acid、phospho、phosphoester、phosphoric、phosphoric acid、phosphoric acid ester、phosphorus
[★]
- 関
- ligase、synthase