Condition Info - BotMed Application

ConditionName

Ornithine Transcarbamylase Deficiency (OTC deficiency)

ConditionDescription

Symptoms

Early start form (more often):
Lacking in energy (dull);
Low appetite;
Problems in breathing rate or body temperature;
Abnormal body activities; 
Developing delay, intellectual inefficiency;
Autism-like symptoms;

Late form (rare):
Confusion episodes, irregular behavior, or less consciousness;
Headache;
Vomiting;
A deviation for high food in protein;
Seizure;

PhysicalFindings

Skin problems and brittle hair;

ClinicalTests

High blood ammonium (not diagnostic); 
Genetic testing (diagnostic);

RiskFactors

IsRedFlag

IsNPLEX

Consequence

Coma;
Progressive liver damage;

ProgressionFromCondition

Symptoms can be triggered by eating high food in protein, illness, or steroids.

TreatmentOptions

PharmOptions

WebLink

https://rarediseases.org/rare-diseases/ornithine-transcarbamylase-deficiency | https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-32