Hyperammonemia
Medical Dictionary
Definition of medical terminology for Hyperammonemia.
Hyperammonemia is of special significance in infants, as it can result in mental retardation. Therefore, it is essential that blood ammonia levels be measured frequently in infants.
NAGS Deficiency
Hyperammonemia Due to N-Acetylglutamate synthetase Deficiency
None ...
Hyperammonemia due to carbamylphosphate Synthetase Deficiency
Hyperammonemia Due to N-Acetylglutamate synthetase Deficiency
Hyperammonemia due to Ornithine Transcarbamylase Deficiency
Hyperargininemia ...
- Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency/translocase deficiency, Citrullinemia, Argininosuccinic aciduria, Argininemia, Hyperammonemia) - Glutaric ...
The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood.
An elevated ammonia level (hyperammonemia) disrupts normal brain and central nervous system function.
Hyperammonemia
Migraine variants
Movement disorders
Paroxysmal vertigo
Poison ingestion
Psychiatric disorders (conversion disorder, dissociative disorder, psychogenic seizures, pseudoseizures) ...
Urea cycle defects with resulting hyperammonemia are due to deficiencies of the enzymes involved in the metabolism of waste nitrogen. The enzyme deficiencies lead to disorders with nearly identical clinical presentations.
Clinical manifestations range from mild (eg, failure to thrive, intellectual disability, episodic hyperammonemia) to severe (eg, altered mental status, coma, death).
ataxia ; atypical ; autism ; cell ; chromosome ; dementia ; gene ; hyperammonemia ; inheritance ; microcephaly ; mutation ; nerve cell ; new mutation ; pattern of inheritance ; protein ; scoliosis ; seizure ; sex chromosomes ; sign ; spectrum ; ...
Prompt treatment can prolong survival, but neurologic deficits are usually present. The course of the late-onset form is sometimes milder but episodes of hyperammonemia are similar to the classic form.
.
Hyperammonemia -- hypoornithinemia -- hypocitrullinemia -- hypoargininemia -- hypoprolinemia ... loose joints
Hypereosinophilic syndrome ... joint pain
Hyperextensible joints ... loose joints
Hyperimmunoglobinemia D with recurrent fever ...
 See also: Deficiency, Symptom, Ammonia, Urea Cycle, Autosomal recessive
  
|
RSS
