ammonium hydroxide has been researched along with Pyruvate Dehydrogenase Complex Deficiency Disease in 3 studies
azane : Saturated acyclic nitrogen hydrides having the general formula NnHn+2.
Pyruvate Dehydrogenase Complex Deficiency Disease: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
| Excerpt | Relevance | Reference |
|---|---|---|
| "The patient lapsed into a coma shortly after birth with severe metabolic acidosis caused by accumulation of lactate and pyruvate." | 1.27 | Fatal case of pyruvate dehydrogenase deficiency. ( Koike, K; Koike, M; Matsuo, M; Ookita, K; Takemine, H, 1985) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (100.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Byrd, DJ | 1 |
| Krohn, HP | 1 |
| Winkler, L | 1 |
| Steinborn, C | 1 |
| Hadam, M | 1 |
| Brodehl, J | 1 |
| Hunneman, DH | 1 |
| Brown, GK | 1 |
| Scholem, RD | 1 |
| Hunt, SM | 1 |
| Harrison, JR | 1 |
| Pollard, AC | 1 |
| Matsuo, M | 1 |
| Ookita, K | 1 |
| Takemine, H | 1 |
| Koike, K | 1 |
| Koike, M | 1 |
3 other studies available for ammonium hydroxide and Pyruvate Dehydrogenase Complex Deficiency Disease
| Article | Year |
|---|---|
Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia.
Topics: Acidosis, Lactic; Ammonia; Female; Humans; Infant, Newborn; Pyruvate Dehydrogenase Complex Deficienc | 1989 |
Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.
Topics: Acidosis, Lactic; Ammonia; Cells, Cultured; Female; Fibroblasts; Humans; Immunohistochemistry; Infan | 1987 |
Fatal case of pyruvate dehydrogenase deficiency.
Topics: Acidosis; Ammonia; Coma; Humans; Infant, Newborn; Kidney; Liver; Male; Pyruvate Dehydrogenase Comple | 1985 |