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Asymptomatic hyperammonemia

MedGen UID:
867194
Concept ID:
C4021552
Finding
Synonym: Hyperammonemia, asymptomatic
 
HPO: HP:0008162

Definition

An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. [from HPO]

Term Hierarchy

Conditions with this feature

Hyperinsulinism-hyperammonemia syndrome
MedGen UID:
376153
Concept ID:
C1847555
Disease or Syndrome
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.\n\nThe severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.

Professional guidelines

PubMed

Lee A, Eldem I, Altintas B, Nguyen H, Willis D, Langley R, Shinawi M
Mol Genet Metab 2023 Jul;139(3):107627. Epub 2023 Jun 7 doi: 10.1016/j.ymgme.2023.107627. PMID: 37327713
Kenneson A, Singh RH
Orphanet J Rare Dis 2020 Oct 9;15(1):279. doi: 10.1186/s13023-020-01560-z. PMID: 33036647Free PMC Article
Coulter DL
J Child Neurol 1995 Nov;10 Suppl 2:S32-9. PMID: 8576567

Recent clinical studies

Etiology

Wong YJ, Fan J, Wan A, Mihic T, Gnyra M
J Clin Psychopharmacol 2023 May-Jun 01;43(3):283-294. doi: 10.1097/JCP.0000000000001689. PMID: 37126830
Vara R, Dhawan A, Deheragoda M, Grünewald S, Pierre G, Heaton ND, Vilca-Melendez H, Hadžić N
Pediatr Transplant 2018 Jun;22(4):e13191. Epub 2018 May 3 doi: 10.1111/petr.13191. PMID: 29726081
Hamed SA, Abdella MM
Epilepsy Res 2009 Sep;86(1):32-41. Epub 2009 May 14 doi: 10.1016/j.eplepsyres.2009.04.002. PMID: 19446440
DeWolfe JL, Knowlton RC, Beasley MT, Cofield S, Faught E, Limdi NA
Epilepsy Res 2009 Jul;85(1):65-71. Epub 2009 Mar 18 doi: 10.1016/j.eplepsyres.2009.02.012. PMID: 19299111
Batshaw ML, Wachtel RC, Cohen L, Starrett A, Boyd E, Perret YM, Chen S
J Pediatr 1986 Feb;108(2):271-5. doi: 10.1016/s0022-3476(86)81003-4. PMID: 3511207

Therapy

Wong YJ, Fan J, Wan A, Mihic T, Gnyra M
J Clin Psychopharmacol 2023 May-Jun 01;43(3):283-294. doi: 10.1097/JCP.0000000000001689. PMID: 37126830
Hamed SA, Abdella MM
Epilepsy Res 2009 Sep;86(1):32-41. Epub 2009 May 14 doi: 10.1016/j.eplepsyres.2009.04.002. PMID: 19446440
DeWolfe JL, Knowlton RC, Beasley MT, Cofield S, Faught E, Limdi NA
Epilepsy Res 2009 Jul;85(1):65-71. Epub 2009 Mar 18 doi: 10.1016/j.eplepsyres.2009.02.012. PMID: 19299111
Batshaw ML, Wachtel RC, Cohen L, Starrett A, Boyd E, Perret YM, Chen S
J Pediatr 1986 Feb;108(2):271-5. doi: 10.1016/s0022-3476(86)81003-4. PMID: 3511207
Murphy JV, Marquardt K
Arch Neurol 1982 Sep;39(9):591-2. doi: 10.1001/archneur.1982.00510210061016. PMID: 6810855

Prognosis

Vara R, Dhawan A, Deheragoda M, Grünewald S, Pierre G, Heaton ND, Vilca-Melendez H, Hadžić N
Pediatr Transplant 2018 Jun;22(4):e13191. Epub 2018 May 3 doi: 10.1111/petr.13191. PMID: 29726081
DeWolfe JL, Knowlton RC, Beasley MT, Cofield S, Faught E, Limdi NA
Epilepsy Res 2009 Jul;85(1):65-71. Epub 2009 Mar 18 doi: 10.1016/j.eplepsyres.2009.02.012. PMID: 19299111
Batshaw ML, Wachtel RC, Cohen L, Starrett A, Boyd E, Perret YM, Chen S
J Pediatr 1986 Feb;108(2):271-5. doi: 10.1016/s0022-3476(86)81003-4. PMID: 3511207

Clinical prediction guides

DeWolfe JL, Knowlton RC, Beasley MT, Cofield S, Faught E, Limdi NA
Epilepsy Res 2009 Jul;85(1):65-71. Epub 2009 Mar 18 doi: 10.1016/j.eplepsyres.2009.02.012. PMID: 19299111
Batshaw ML, Wachtel RC, Cohen L, Starrett A, Boyd E, Perret YM, Chen S
J Pediatr 1986 Feb;108(2):271-5. doi: 10.1016/s0022-3476(86)81003-4. PMID: 3511207
Batshaw ML, Wachtel RC, Thomas GH, Starrett A, Brusilow SW
J Pediatr 1984 Jul;105(1):86-91. doi: 10.1016/s0022-3476(84)80369-8. PMID: 6737153

Recent systematic reviews

Wong YJ, Fan J, Wan A, Mihic T, Gnyra M
J Clin Psychopharmacol 2023 May-Jun 01;43(3):283-294. doi: 10.1097/JCP.0000000000001689. PMID: 37126830

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