About The Medical Condition Cerebroatrophic Hyperammonemia
Find the definition of the medical term Cerebroatrophic Hyperammonemia. Cerebroatrophic Hyperammonemia defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Cerebroatrophic Hyperammonemia
| Cerebroatrophic Hyperammonemia Medical Condition |
|---|
What's The Definition Of The Medical Condition Cerebroatrophic Hyperammonemia?
An inherited disorder that is associated with X-linked transmission and may be lethal in utero to hemizygous males. Clinically, birth and development in affected females is normal until the age of 6-25 months, when progressive loss of voluntary control of hand movements and communication skills, ataxia, stereotypic hand movements, seizures, autistic behavior, intermittent hyperventilation, and hyperammonemia appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
|
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
- Enolase, Neuron-Specific ‐ An enzyme of the lyase class that catalyzes the dehydration of…
- Lymphomas, Diffuse Mixed-Cell ‐ A heterogeneous group of intermediate-grade lymphomas of mixed…
- Immunofluorescence Assay, Direct ‐ A form of fluorescent antibody technique utilizing a fluorochrome…
- Borna disease virus ‐ A species in the genus Bornavirus, family BORNAVIRDAE, causing…
- Lymphocytotoxicity Test, Antiglobulin-Augmented ‐ The demonstration of the cytotoxic effect on a target cell of…
- Rab3A Protein ‐ The most abundant member of the RAB3 GTP-BINDING PROTEINS. It…
- Nursing Schools ‐ Educational institutions for individuals specializing in the…
- Sexually Transmitted Disease, Bacterial ‐ Bacterial diseases transmitted or propagated by…
- Disorders, Phobic ‐ Anxiety disorders in which the essential feature is persistent…
- Polypeptide B880, Light-Harvesting ‐ A system consisting of proteins and cofactors which acts as a…