alanine has been researched along with Galactosemias 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.
Galactosemias: A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Galactokinase deficiency is an inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life." | 1.31 | Novel mutations in the GALK1 gene in patients with galactokinase deficiency. ( Angelicheva, D; Hunter, M; Kalaydjieva, L; Levy, HL; Pueschel, SM, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Hunter, M | 1 |
| Angelicheva, D | 1 |
| Levy, HL | 1 |
| Pueschel, SM | 1 |
| Kalaydjieva, L | 1 |
1 other study available for alanine and Galactosemias
| Article | Year |
|---|---|
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Topics: Adolescent; Adult; Alanine; Amino Acid Sequence; Amino Acid Substitution; Animals; Arginine; Child, | 2001 |