About The Medical Condition Deficiency, Argininosuccinic Acid Synthetase, Partial
Find the definition of the medical term Deficiency, Argininosuccinic Acid Synthetase, Partial. Deficiency, Argininosuccinic Acid Synthetase, Partial defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Deficiency, Argininosuccinic Acid Synthetase, Partial
| Deficiency, Argininosuccinic Acid Synthetase, Partial Medical Condition |
|---|
What's The Definition Of The Medical Condition Deficiency, Argininosuccinic Acid Synthetase, Partial?
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
- Annular Groove ‐ A disorder present in the newborn infant in which constriction…
- Monograph (PT) ‐ In cataloging, any publication that is not a serial. It is usually…
- Associated Fibril-Protein, Scrapie ‐ Protease-resistant core of PrPSC, the abnormal isoform of prion…
- Germ Layers ‐ The three layers of cells comprising the…
- Uroporphyrinogen Synthetase ‐ An enzyme that catalyzes the formation of hydroxymethylbilane…
- Deficiency Disease Hexosaminidase A ‐ An autosomal recessive inherited gangliosidosis characterized…
- Pharmacy Education, Continuing ‐ Educational programs designed to inform graduate pharmacists…
- Organisms, GMO ‐ Organisms whose GENOME has been changed by a GENETIC ENGINEERING…
- Lyase, Chondroitin Sulfate ‐ Enzymes which catalyze the elimination of delta-4,5-D-glucuronate…
- Induced Hypothermia ‐ Abnormally low body temperature intentionally induced in warm-blooded…