Metabolic disorders include various diseases that affect the normal metabolism of a body. Metabolic diseases are inborn ailments caused by the genetic history of a newborn or chromosomal abnormality. There are several types of metabolic disorders that are life threatening and present symptoms that are not specific to them and are therefore, diagnosed late. Some metabolic disorders include:
PHENYLKETONURIA
Phenylketonuria is an inherited metabolic disorder in which a newborn’s body cannot process a part of protein called phenylalanine, which is present in most food. The infected baby has very low level of phenylalanine hydroxylase or PAH, which is important for the conversion of phenylalanine into other substances the body requires.
Symptoms
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- Infected baby may have a musty body odour and dry skin that are side effects of excess phenylalanine in the body.
- Seizures and slow development are common symptoms.
- Infected baby has behavioural problems and psychiatric disorders.
- Infected baby is likely to have lighter skin colour, skin problems and blonde hair.
Risks
If untreated, phenylalanine gets stored in the bloodstream and can cause brain damage, mental retardation, infantile spasms, hyperactivity and disturbed behaviour.
GALACTOSEMIA
Infant with galactosemia has an excessive storage of a certain kind of sugar called galactose. A baby suffering from galactosemia does not have the enzyme, which converts galactose into glucose thereby, resulting in galactosemia. You need to modify the diet of your baby if he suffers from this disease. This diet is called galactose-restricted diet and is an inborn error of metabolism that restricts the consumption of milk products for the entire life.
Symptoms
- In the initial months after birth, the baby looks normal, but with increased milk feeding, problems such as vomiting, weight loss and diarrhoea start developing.
- Child with galactosemia has difficulty with language and speech.
- Infected infant has symptoms of lethargy and jaundice. These symptoms are not specific to galactosemia thus, resulting in late diagnosis.
- Irritability is another common sign.
Risks
Consumption of milk products may result in liver damage, mental retardation, cataract formation, kidney failure, failure to thrive and abnormal clotting.
UREA CYCLE DEFECTS
These are metabolic defects, which result from the inability to detoxify nitrogen from the body and result in hyperammonemia and respiratory alkalosis. The nitrogen accumulates in the form of ammonia, a highly toxic substance, and is not excreted from the body.
Symptoms
- Hyperactive behavior, sometimes, accompanied by screaming and self-injurious behaviour.
- Refusal to eat high-protein food.
- Frequent vomiting, especially, after protein intake.
- Sense of lethargy and delirium.
Risks
A substantial cause of brain damage, untreated urea cycle defects may result in coma admission or death.
SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY ( SCADD)
It is an autosomal recessive disorder in which a newborn inherits two mutated genes- one from each parent. This defect leads to the abnormality of an enzyme, which carries out the conversion of fat into energy. The metabolism process slows down and the body cannot produce enough glucose or need extra energy to work.
Symptoms
- Feeling too sleepy or drowsiness.
- Change in behaviour or irritation with surroundings.
- Poor appetite, fever, vomiting and diarrhoea are some common symptoms.
- Occurrence of metabolic acidosis in newborns. It is caused by increased level of acidic substances in the body.
Risks
Your baby can suffer from difficulty in learning, delayed motor skills, poor weight gain, enlarged liver, muscle weakness, various infections, hyperactivity and irregular muscle tone.
These diseases must be diagnosed and treated on time else they may result in lifelong diseases that can cause death. If your child has developed any above stated symptom, consult a doctor immediately to avoid severe future conditions.
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