Page last updated: 2024-11-08

serine and Citrullinemia

serine has been researched along with Citrullinemia in 2 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

Citrullinemia: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)

Research Excerpts

ExcerptRelevanceReference
"We describe a 64-year-old man with 'citrullinemia type II' whose serum citrulline levels fluctuated between normal and abnormally high during episodic manifesting periods."7.71Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels. ( Kobayashi, K; Maruyama, H; Nishio, T; Ogawa, M; Saheki, T; Sunohara, N, 2001)
"We describe a 64-year-old man with 'citrullinemia type II' whose serum citrulline levels fluctuated between normal and abnormally high during episodic manifesting periods."3.71Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels. ( Kobayashi, K; Maruyama, H; Nishio, T; Ogawa, M; Saheki, T; Sunohara, N, 2001)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (50.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Şeker-Yılmaz, B1
Kör, D1
Tümgör, G1
Ceylaner, S1
Önenli-Mungan, N1
Maruyama, H1
Ogawa, M1
Nishio, T1
Kobayashi, K1
Saheki, T1
Sunohara, N1

Other Studies

2 other studies available for serine and Citrullinemia

ArticleYear
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.
    The Turkish journal of pediatrics, 2017, Volume: 59, Issue:3

    Topics: Child; Citrulline; Citrullinemia; High-Throughput Nucleotide Sequencing; Humans; Infant; Infant Form

2017
Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels.
    Journal of the neurological sciences, 2001, Jan-01, Volume: 182, Issue:2

    Topics: Ammonia; Biomarkers; Brain; Cerebrovascular Circulation; Citrulline; Citrullinemia; Humans; Magnetic

2001