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Hyperammonemia

Known as: Elevated Ammonia Level, HYPERAMMONAEMIA, Hyperammonemia [Disease/Finding] 
Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
National Institutes of Health

Related topics

Related topics

26 relations
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROMEAdult-onset citrullinemia type 2Argininosuccinic AciduriaCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE

Broader (1)

Nutritional and Metabolic Diseases

Narrower (1)

Renal carnitine transport defect

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy
Tubular aggregates (TAs) are cytoplasmic aggregates of membranous tubules derived from the sarcoplasmic reticulum and usually 50… 
1994
1994
K+‐, hypoosmolarity‐, and NH4+‐induced taurine release from cultured rabbit Müller cells: Role of NA+ and CL− ions and relation to cell volume changes
The release of preloaded radiolabeled taurine (TAU) from cultured rabbit Müller cells [14–21 days in vitro (DIV)] was measured… 
Highly Cited
1981
Highly Cited
1981
Ammonia accumulation and inhibition of photosynthesis in methionine sulfoximine treated spinach.
Ammonia accumulation and photosynthetic rate inhibition took place when spinach leaf tissue was supplied with methionine… 
Highly Cited
1980
Highly Cited
1980
Hydroxymethylglutaryl CoA lyase deficiency: features resembling Reye syndrome.
A 2-year-old boy had acute fever, malaise, and somnolence with hepatomegaly, increased blood ammonia content (338 microM), high… 
Highly Cited
1975
Highly Cited
1975
The therapy of hyperammonemia due to ornithine transcarbamylase defiency in a male neonate.
Ornithine transcarbamylase deficiency in the male neonate has been considered to be invariably fatal because of the severity of… 
Highly Cited
1974
Highly Cited
1974
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.
The effects of varying dietary protein intake, and of supplements of ornithine, arginine, lysine, and proline on a patient with… 
1974
1974
Lethal neonatal deficiency of carbamyl phosphate synthetase.
Abstract A male infant, who appeared normal at birth, manifested hypothermia, irritability, and hypertonia 24 hours after… 
1970
1970
Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture.
  • V. ShihJ. Schulman
  • Clinica chimica acta; international journal of…
  • 1970
  • Corpus ID: 26709384
Highly Cited
1969
Highly Cited
1969
BIOCHEMICAL INVESTIGATIONS OF HYPERAMMONÆMIA
1969
1969
Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.
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