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Hypoargininemia

MedGen UID:
395333
Concept ID:
C1859735
Finding
Synonyms: Arginine deficiency
 
HPO: HP:0005961

Definition

A decreased concentration of arginine in the blood. [from HPO]

Conditions with this feature

Citrullinemia type I
MedGen UID:
104491
Concept ID:
C0175683
Disease or Syndrome
Citrullinemia type I (CTLN1) presents as a clinical spectrum that includes an acute neonatal form (the "classic" form), a milder late-onset form, a form without symptoms or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum. Distinction between the clinical forms is based on clinical findings and is not clear-cut. Infants with the acute neonatal form appear normal at birth. Shortly thereafter, they develop hyperammonemia and become progressively lethargic, feed poorly, often vomit, and may develop signs of increased intracranial pressure (ICP). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites (e.g., glutamine) result in ICP, increased neuromuscular tone, spasticity, ankle clonus, seizures, loss of consciousness, and death. Children with the severe form who are treated promptly may survive for an indeterminate period of time, but usually with significant neurologic deficits. The late-onset form may be milder than that seen in the acute neonatal form, for unknown reasons. The episodes of hyperammonemia are similar to those seen in the acute neonatal form, but the initial neurologic findings may be more subtle because of the older age of the affected individuals.
Argininosuccinate lyase deficiency
MedGen UID:
78687
Concept ID:
C0268547
Disease or Syndrome
Deficiency of argininosuccinate lyase (ASL), the enzyme that cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle, is characterized by a severe neonatal onset form and a late onset form. The severe neonatal onset form, which is indistinguishable from that of other urea cycle disorders, is characterized by hyperammonemia within the first few days after birth accompanied by vomiting, lethargy, hypothermia, and poor feeding. In the absence of treatment, lethargy, seizures, and coma worsen, resulting in death. In contrast, the late onset form ranges from episodic hyperammonemia triggered by acute infection or stress to cognitive impairment, behavioral abnormalities, and/or learning disabilities in the absence of any documented episodes of hyperammonemia. Manifestations of ASL deficiency that appear to be unrelated to the severity or duration of hyperammonemic episodes include: (1) neurocognitive deficiencies (attention deficit hyperactivity disorder [ADHD], developmental disability, seizures, and learning disability); (2) liver disease (hepatitis, cirrhosis); (3) trichorrhexis nodosa (coarse brittle hair that breaks easily); and (4) systemic hypertension.
Congenital hyperammonemia, type I
MedGen UID:
199727
Concept ID:
C0751753
Disease or Syndrome
Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by Klaus et al., 2009). Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency (207800).

Recent clinical studies

Etiology

Yeo TW, Lampah DA, Rooslamiati I, Gitawati R, Tjitra E, Kenangalem E, Price RN, Duffull SB, Anstey NM
PLoS One 2013;8(7):e69587. Epub 2013 Jul 29 doi: 10.1371/journal.pone.0069587. PMID: 23922746Free PMC Article
Polycarpou E, Zachaki S, Tsolia M, Papaevangelou V, Polycarpou N, Briana DD, Gavrili S, Kostalos C, Kafetzis D
JPEN J Parenter Enteral Nutr 2013 Sep;37(5):617-22. Epub 2013 Jan 17 doi: 10.1177/0148607112471561. [Epub ahead of print] PMID: 23329787

Diagnosis

Polycarpou E, Zachaki S, Tsolia M, Papaevangelou V, Polycarpou N, Briana DD, Gavrili S, Kostalos C, Kafetzis D
JPEN J Parenter Enteral Nutr 2013 Sep;37(5):617-22. Epub 2013 Jan 17 doi: 10.1177/0148607112471561. [Epub ahead of print] PMID: 23329787
Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D
Hum Mol Genet 2000 Nov 22;9(19):2853-8. PMID: 11092761

Therapy

Yeo TW, Lampah DA, Rooslamiati I, Gitawati R, Tjitra E, Kenangalem E, Price RN, Duffull SB, Anstey NM
PLoS One 2013;8(7):e69587. Epub 2013 Jul 29 doi: 10.1371/journal.pone.0069587. PMID: 23922746Free PMC Article
Polycarpou E, Zachaki S, Tsolia M, Papaevangelou V, Polycarpou N, Briana DD, Gavrili S, Kostalos C, Kafetzis D
JPEN J Parenter Enteral Nutr 2013 Sep;37(5):617-22. Epub 2013 Jan 17 doi: 10.1177/0148607112471561. [Epub ahead of print] PMID: 23329787
Wu G, Jaeger LA, Bazer FW, Rhoads JM
J Nutr Biochem 2004 Aug;15(8):442-51. doi: 10.1016/j.jnutbio.2003.11.010. PMID: 15302078
Brusilow SW
J Clin Invest 1984 Dec;74(6):2144-8. doi: 10.1172/JCI111640. PMID: 6511918Free PMC Article
Batshaw ML, Brusilow SW
J Pediatr 1980 Dec;97(6):893-900. PMID: 7441417

Prognosis

Yeo TW, Lampah DA, Rooslamiati I, Gitawati R, Tjitra E, Kenangalem E, Price RN, Duffull SB, Anstey NM
PLoS One 2013;8(7):e69587. Epub 2013 Jul 29 doi: 10.1371/journal.pone.0069587. PMID: 23922746Free PMC Article
Yeo TW, Lampah DA, Gitawati R, Tjitra E, Kenangalem E, McNeil YR, Darcy CJ, Granger DL, Weinberg JB, Lopansri BK, Price RN, Duffull SB, Celermajer DS, Anstey NM
J Infect Dis 2008 Aug 15;198(4):602-8. doi: 10.1086/590209. PMID: 18605903Free PMC Article

Clinical prediction guides

Darcy CJ, Woodberry T, Davis JS, Piera KA, McNeil YR, Chen Y, Yeo TW, Weinberg JB, Anstey NM
Clin Chem Lab Med 2014 Apr;52(4):573-81. doi: 10.1515/cclm-2013-0698. PMID: 24166672Free PMC Article
Yeo TW, Lampah DA, Rooslamiati I, Gitawati R, Tjitra E, Kenangalem E, Price RN, Duffull SB, Anstey NM
PLoS One 2013;8(7):e69587. Epub 2013 Jul 29 doi: 10.1371/journal.pone.0069587. PMID: 23922746Free PMC Article
Polycarpou E, Zachaki S, Tsolia M, Papaevangelou V, Polycarpou N, Briana DD, Gavrili S, Kostalos C, Kafetzis D
JPEN J Parenter Enteral Nutr 2013 Sep;37(5):617-22. Epub 2013 Jan 17 doi: 10.1177/0148607112471561. [Epub ahead of print] PMID: 23329787
Yeo TW, Lampah DA, Gitawati R, Tjitra E, Kenangalem E, McNeil YR, Darcy CJ, Granger DL, Weinberg JB, Lopansri BK, Price RN, Duffull SB, Celermajer DS, Anstey NM
J Exp Med 2007 Oct 29;204(11):2693-704. Epub 2007 Oct 22 doi: 10.1084/jem.20070819. [Epub ahead of print] PMID: 17954570Free PMC Article

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