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alanine and Congenital Erythropoietic Porphyria

alanine has been researched along with Congenital Erythropoietic Porphyria in 1 studies

Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.

Research Excerpts

ExcerptRelevanceReference
"Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease caused by the deficient activity of the heme biosynthetic enzyme, uroporphyrinogen III synthase (URO-synthase), and the accumulation of the nonphysiologic and phototoxic porphyrin I isomers."1.33Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. ( Astrin, KH; Berry, AA; Desnick, RJ; Lim, HW; Lucky, AW; Shabbeer, J, 2005)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Berry, AA1
Desnick, RJ1
Astrin, KH1
Shabbeer, J1
Lucky, AW1
Lim, HW1

Other Studies

1 other study available for alanine and Congenital Erythropoietic Porphyria

ArticleYear
Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.
    Archives of dermatology, 2005, Volume: 141, Issue:12

    Topics: Adolescent; Alanine; Child, Preschool; Exons; Genetic Counseling; Genotype; Glycine; Humans; Male; M

2005