Deficiency related to digestive enzymes produced in the human body is Multiple Carboxylase Deficiency. This rare disorder is either detected at birth or till the age of eight years. Slow growth and constant illness are the results of this defect if not treated on time.
Distinct processes were invented to detect MCD in infants and onset patients to start the treatments at the earliest.
- A compulsory detection procedure of Multiple Carboxylase Deficiency checks for all newly born babies.
- This process is called Newborn Screening Service.
Other tests include:
- Plasma Profile
- Serum Assay
- Urine Organic Acids
- DNA testing
- WBC (white blood cells)
Initial symptoms are enough to understand the familiarity and diagnosis of this rare disease. Yet doctors, prefer lab results as follows:
- Level of Ammonia
- Strong odored urine
- Abnormal urine organic acids
As for now, there are no specific drugs or medications available for curing this genetic disorder. Preventions and drugs for the symptoms are given to a patient for effective recovery:
- Prescribed Biotin dosages according to age (20-300 mg per day)
- Avoid Starving
- Special Counselling from beginning
- Regular hearing and growth checkups
- Rapid Actions on fever and other infections
Dermatologic manifestations,Alopecia,Rashes,Mucocutaneous candidiasis
Biotin (10-20 mg/day orally)
Lethargy,Hypotonia,Seizures,Difficulty feeding,Breathing,Vomiting,Developmental delays,Ataxia,Seizures,Coma