This article will elaborate on Phenylketonuria, its symptoms, and the tests used to detect it.
What is Phenylketonuria?
Phenylketonuria is the condition when the levels of phenylalanine build up. This condition happens when the mutation occurs at the PAH gene, which is responsible for synthesising an enzyme that breaks phenylalanine. Phenylketonuria is also called PKU and if left untreated, it can lead to cognitive development. Medications and food with diets with low phenylalanine can help the condition.
What Are the Types of Phenylketonuria?
Based on the severity of the phenylketonuria, types are usually divided into the following:
- Classic Phenylketonuria: This condition happens when the enzyme responsible for the breakdown of phenylalanine is missing. This results in high levels of phenylalanine in the blood and can damage the brain severely.
- Less form of phenylketonuria: This condition happens when the enzyme is present in less quantity and leads to low levels of phenylalanine. This condition also damages the brain to some extent.
What Are the Symptoms of Phenylketonuria?
There are several symptoms of phenylketonuria:
- Skin and Hair discoloration
- Odour in skin, urine and breath
- Small head size
- Delayed development
- Seizures
- Intellectual disability
- Behavioural problems
- Mental health problems
- Hyperactivity
Which Tests Are Used in Phenylketonuria Detection?
Tests used for the detection of phenylketonuria were:
- Blood Tests (Book Now)
- Metabolic Screen 119 Disease Urine (Book Now)
- Urine Test at Home (Book Now)
- Guthrie Bacterial Inhibition Assay (BIA)
- Tandem mass spectrometry
- Automated Fluorometric Assay
Where Are Phenylketonuria Tests Done in Delhi?
Patients can choose Ganesh Diagnostic Centre for any type of Phenylketonuria test in Delhi NCR. Ganesh Diagnostic provides a Phenylketonuria test facility in Delhi NCR with heavy discounts and quality test results.
What is the Price of a Phenylketonuria Test in Delhi NCR?
The price of Phenylketonuria tests depends on the type of test and the healthcare facility. Patients can choose Ganesh Diagnostic Centre for Phenylketonuria tests for the best price and quality results.
Frequently Asked Questions (FAQ’s)
What is Phenylketonuria?
Phenylketonuria is a disease related to elevation of phenylalanine levels in the body.
What are the symptoms of Phenylketonuria disease?
Symptoms of Phenylketonuria include odour from urine, breath and body, seizures, delayed growth, mental abnormality, small head size etc.
What are the Different Tests Used to Diagnose Phenylketonuria?
Different types of tests used in the diagnosis of Phenylketonuria include blood tests, urine tests, tandem mass spectroscopy etc.
What is the ICD-10 code for the Phenylketonuria?
The ICD-10 code for Phenylketonuria is E70.0
How to download the Phenylketonuria Report Online?
Patients can visit Ganesh's diagnostic website or call at 011-47-444-444 / 011-47-333-333 for Phenylketonuria reports.
What is the Price of a Phenylketonuria Test in Delhi NCR?
The price of Phenylketonuria tests in Delhi NCR depends on the type of test the patient is going for, the area and the healthcare facility. Patients can call at numbers 011-47-444-444 / 011-47-333-333 for an appointment or visit the Ganaesh diagnostic website for Phenylketonuria appointments.
Where do Phenylketonuria tests in Delhi NCR be done?
Patients can choose Ganesh Diagnostic Centre for the quality test and heavy discount on any type of Phenylketonuria test. Patients can call on 011-47-444-444 / 011-47-333-333 for online booking of Phenylketonuria tests.
Where is the Phenylketonuria Testing Centre near me in Delhi NCR?
Patients can type a Phenylketonuria testing centre near me in Google search for the nearest centre available in Delhi.
