About The Medical Condition Partial Argininosuccinic Acid Synthetase Deficiency Disease
Find the definition of the medical term Partial Argininosuccinic Acid Synthetase Deficiency Disease. Partial Argininosuccinic Acid Synthetase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Partial Argininosuccinic Acid Synthetase Deficiency Disease
| Partial Argininosuccinic Acid Synthetase Deficiency Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Partial Argininosuccinic Acid Synthetase Deficiency Disease?
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)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Guanine Nucleotide Exchange Factors ‐ Protein factors that promote the exchange of GTP for GDP bound…
- Rheumatic Chorea ‐ Acquired and hereditary conditions which feature CHOREA as a…
- Transitional Cell Carcinoma ‐ A malignant neoplasm derived from transitional epithelium, occurring…
- Hydroxymethylbilane Synthetase ‐ An enzyme that catalyzes the formation of hydroxymethylbilane…
- Cervical Ripening ‐ A change in the cervix with respect to its readiness to relax.…
- Evaluations ‐ Studies determining the effectiveness or value of processes,…
- Chromaffin Cell ‐ Cells that store epinephrine secretory vesicles. During times…
- Glutathione S-Transferase 3 ‐ A transferase that catalyzes the addition of aliphatic, aromatic,…
- Alveolodental Membranes ‐ Fibrous connective tissue surrounding the root of a tooth that…
- Soft Tissue Sarcomas ‐ A connective tissue neoplasm formed by proliferation of mesodermal…