Symptoms for Ornithine Transcarbamylase Deficiency.

As mentioned in the previous post "How to obtain Ornithine Transcarbamylase Deficiency?", it is mentioned that males usually get contracted with this disease more frequently as compared to females as it is a X-linked recessive disorder. However, it does not just stops there. Hemizygote males has different symptoms as compared to heterozygote females.

Hemizygote males will appear to be normal at birth. Symptoms of OTC deficiency will only start appearing from 24 hours to 72 hours after being fed, whereby proteins is usually included as part of the meal. The symptoms will be expressed in neurological, gastronomical and others. 

Neurological symptoms are caused because of nerves being damaged in the infants mainly due to hypoammonemia which is the result of OTC deficiency.

The first neurological symptom is infantile hypotonia. Infantile hypotonia is basically hypotonia occurring at birth. Hypotonia is due to decreased muscle tone. Infants with infantile hypotonia will find difficulties in keeping their joints, knees and elbows, bent. They will appear to be limp as well. Additionally, these infants will continue to face problems when comes to being fed.

The second neurological symptom is neonatal seizures. The downside to neonatal seizures as compared to normal seizures is that neonatal seizures are very difficult to be detected as the infants will not experience convulsion. When the baby experience neonatal seizure, he/she will turn unresponsive out of sudden with his/her eyes looking at everywhere. They will also be lip smacking and there may be short periods whereby they are not breathing.

Moving on to gastrointestinal symptoms. The first symptom is persistent vomiting and poor feeding. This may lead to dehydration in the baby.

The next symptom is hepatomegaly. Hepatomegaly is a liver disease and usually due to the unusual increasing in size of the baby's liver. Livers usually will only increase with one's age and weight. The abnormal liver will be very tender to touch if it enlarges too rapidly. Additionally, hepatomegaly will cause pain to the baby. This is due to pain in the abdominal area or fullness.









Lastly, OTC deficiency in hemizygote males will have symptoms such as hyperventilation, hypothermia and lethargy.

In 10% of the heterozygote females, the symptoms for OTC deficiency will only start appearing in their childhood unlike the hemizygote males. However, heterozygote females has too, both neurological and gastrointestinal symptoms.

For the first neurological symptom is acute ataxia. When ataxia is being diagnosed in a child, the child will find it unable to coordinate his/her own muscle activities. The child will be unable to control the direction, intensity and rate of the movements they wish to do. This will end up having the child to be unable to complete the particular movement properly also they may lose their balance.







Another neurological symptom is hyperactivity. Hyperactivity is one of the early symptoms. Hyperactivity in children usually brings about  screaming for no particular reasons and they will cause harm to their own body. On top of that, they are unwilling to consume meat or any related food that are high in protein.

Lastly is migraine - headaches. This is due to too much protein being consumed.

Heterozygote females do experience gastrointestinal symptoms. However, these symptoms are similar to those gastrointestinal symptoms occurring in hemizygote males. These gastrointestinal symptoms are also known as persistent vomiting and hepatomegaly.




References:
http://www.pedbase.org/o/ornithine-transcarbamylas-deficiency/
http://learnpediatrics.com/body-systems/nervous-syste/approach-to-the-ataxic-child/
http://www.healthline.com/symptom/liver-enlarged
http://www.healthcaremagic.com/articles/Enlarged-liver-or-Hepatomegaly-in-children/7246
http://www.emedicinehealth.com/seizures_in_children/article_em.htm
http://www.aim4health.com/family/otc.htm
https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/309/printFullReport

Pictures:
http://www.carbaglu.net/hcp/clinical-presentation.php
http://en.wikipedia.org/wiki/Hepatomegaly
http://www.medindia.net/patients/patientinfo/ataxia.htm
http://www.rayur.com/hypotonic-infant.html