Maple Bark Disease (मेपल बार्क डिज़ीज़) एक rare genetic metabolic disorder है, जिसे Maple Syrup Urine Disease (MSUD) variant भी कहा जाता है।
- यह रोग मुख्य रूप से newborns और infants में पाया जाता है।
- नाम “Maple Bark” या “Maple Syrup” इसलिए पड़ा क्योंकि urine में characteristic sweet smell होती है, जो maple syrup जैसी होती है।
- यह condition amino acid metabolism (ब्रांच्ड-chain amino acids: leucine, isoleucine, valine) में defect के कारण होती है।
- Untreated cases में neurological complications और growth delay हो सकता है।
Maple Bark Disease क्या है (What is Maple Bark Disease)
- Inherited autosomal recessive disorder
- Defective branched-chain α-keto acid dehydrogenase complex
- Leads to accumulation of branched-chain amino acids and their toxic metabolites
- Symptoms appear in early infancy, often within first week of life
Maple Bark Disease कारण (Causes of Maple Bark Disease)
1. Genetic Mutation
- Mutation in genes encoding BCKD complex (BCKDHA, BCKDHB, DBT)
- Autosomal recessive inheritance – both parents must be carriers
2. Metabolic Dysfunction
- Impaired breakdown of leucine, isoleucine, valine
- Accumulation leads to toxic effects on brain and organs
3. Family History
- High risk if siblings or family members affected
Maple Bark Disease लक्षण (Symptoms of Maple Bark Disease)
Early symptoms in newborns:
- Sweet-smelling urine (maple syrup odor)
- Poor feeding or vomiting
- Lethargy, hypotonia (weak muscles)
- Seizures or abnormal movements
- Developmental delay if untreated
Advanced symptoms:
- Intellectual disability
- Neurological deterioration
- Failure to thrive
- Coma or death in severe untreated cases
Early detection is critical to prevent irreversible neurological damage।
Maple Bark Disease कैसे पहचाने (Diagnosis of Maple Bark Disease)
- Newborn Screening / Tandem Mass Spectrometry – detects elevated leucine, isoleucine, valine
- Urine Analysis – characteristic sweet maple syrup smell
- Genetic Testing – mutation in BCKD complex genes
- Blood Tests – plasma amino acid analysis
- Clinical Examination – feeding difficulties, hypotonia, neurological signs
Early diagnosis is essential for timely dietary and medical intervention।
Maple Bark Disease इलाज (Treatment of Maple Bark Disease)
1. Dietary Management
- Restrict branched-chain amino acids (leucine, isoleucine, valine)
- Special medical formulas for infants
- Careful monitoring of amino acid levels
2. Medical Therapy
- Thiamine supplementation in responsive variants
- Treatment of metabolic crises: IV glucose, dialysis in severe cases
3. Liver Transplant
- Considered in severe or unresponsive cases
- Can normalize amino acid metabolism
4. Supportive Care
- Regular monitoring of growth, development, neurological function
- Physical and occupational therapy for delayed milestones
Early and strict treatment significantly improves prognosis and neurological outcomes।
रोकथाम (Prevention)
- Genetic counseling for families with affected children
- Newborn screening programs
- Avoid consanguineous marriages in high-risk populations
- Early dietary intervention if detected
सावधानियाँ (Precautions)
- Strict dietary adherence to prevent metabolic crises
- Monitor plasma amino acids regularly
- Prompt treatment of infections or fasting episodes
- Family education about emergency management
FAQs (अक्सर पूछे जाने वाले प्रश्न)
Q1. क्या Maple Bark Disease cure हो सकती है?
No complete cure, लेकिन strict dietary management और early intervention से symptoms control और neurological protection possible है।
Q2. क्या यह genetic है?
हाँ, autosomal recessive disorder है।
Q3. Sweet-smelling urine हर बच्चे में दिखती है क्या?
नहीं, यह विशेष feature affected infants में होता है।
Q4. Prognosis कैसा है?
Early detection और dietary management में normal growth और development achievable है।
निष्कर्ष (Conclusion)
Maple Bark Disease (मेपल बार्क डिज़ीज़) एक rare metabolic disorder है, जो branched-chain amino acid metabolism defect के कारण होती है।
Early diagnosis, dietary management, thiamine supplementation और supportive care से neurological complications को prevent किया जा सकता है।
अगर किसी newborn में sweet-smelling urine, lethargy, या feeding difficulties दिखें, तो तुरंत metabolic specialist या pediatrician से consult करना चाहिए।