About The Medical Condition Diseases, Fumarylacetoacetase Deficiency
Find the definition of the medical term Diseases, Fumarylacetoacetase Deficiency. Diseases, Fumarylacetoacetase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Diseases, Fumarylacetoacetase Deficiency
| Diseases, Fumarylacetoacetase Deficiency Medical Condition |
|---|
What's The Definition Of The Medical Condition Diseases, Fumarylacetoacetase Deficiency?
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features mental retardation, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
|
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
- Irving Method ‐ Surgical interruption of the fallopian tube during laparotomy…
- Oxidase, Pyridoxine-5-Phosphate ‐ An enzyme catalyzing the deamination of pyridoxaminephosphate…
- Polygenic Trait ‐ A phenotypic outcome that is determined by more than one gene,…
- Benign Cranial Nerve Tumors ‐ Benign and malignant neoplasms that arise from one or more of…
- Liberiictis ‐ Agile, keen-sighted mammals of Asia and Africa that feed on rodents…
- Coronary Reperfusions ‐ Generally, restoration of blood supply to heart tissue which…
- Enterobacteria phage IKe ‐ A species of filamentous phage in the genus INOVIRUS, family…
- Injections, Epidural ‐ The injection of drugs, most often analgesics, into the spinal…
- Diphosphohydrolase, ATP ‐ A calcium-activated enzyme that catalyzes the hydrolysis of ATP…
- Encephalitis Viruses, California ‐ A species in the BUNYAVIRUS genus of the family BUNYAVIRIDAE.…