Multiple Acyl-CoA Dehydrogenase Deficiency (MADD / रिबोफ्लेविन-रिस्पॉन्सिव मेटाबोलिक डिसऑर्डर) एक rare inherited metabolic disorder है।
- यह disorder fatty acid, amino acid और choline metabolism को प्रभावित करता है।
- Enzyme defect के कारण energy production में कमी और toxic metabolite accumulation होती है।
- MADD infantile-onset, late-onset forms में पाया जा सकता है।
- इसे कभी-कभी Glutaric acidemia type II भी कहा जाता है।
Multiple Acyl-CoA Dehydrogenase Deficiency क्या है (What is MADD)
- Acyl-CoA dehydrogenases fatty acid oxidation के लिए जरूरी enzymes हैं।
- इनकी कमी से mitochondrial energy production impaired होती है।
- Blood में organic acids और acylcarnitines accumulate हो जाते हैं।
- Clinical spectrum mild muscle weakness से लेकर life-threatening metabolic crisis तक हो सकता है।
Multiple Acyl-CoA Dehydrogenase Deficiency कारण (Causes of Multiple Acyl-CoA Dehydrogenase Deficiency)
1. Genetic Mutation
- Autosomal recessive inheritance
- Mutations in ETFA, ETFB, or ETFDH genes
2. Enzyme Deficiency
- Multiple acyl-CoA dehydrogenases dysfunctional
- Fatty acid oxidation impaired
3. Triggers for Symptoms
- Fasting, illness, fever
- High-fat diet or prolonged exercise
MADD primarily genetic है और metabolic stress trigger करता है symptoms।
Multiple Acyl-CoA Dehydrogenase Deficiency लक्षण (Symptoms of Multiple Acyl-CoA Dehydrogenase Deficiency)
Depends on age of onset:
1. Infantile-Onset MADD
- Severe hypotonia (muscle weakness)
- Hypoglycemia (low blood sugar)
- Vomiting, feeding difficulties
- Hepatomegaly (enlarged liver)
- Metabolic acidosis
- Cardiomyopathy (rare severe cases)
2. Late-Onset MADD (Juvenile / Adult)
- Muscle weakness, fatigue
- Exercise intolerance
- Rhabdomyolysis (muscle breakdown)
- Episodic hypoglycemia
- Mild liver dysfunction
Late-onset form often misdiagnosed as muscle disorder or metabolic myopathy।
Multiple Acyl-CoA Dehydrogenase Deficiency कैसे पहचाने (Diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency)
- Blood Tests – acylcarnitine profile, organic acids in urine
- Genetic Testing – confirm mutation in ETFA, ETFB, ETFDH
- Enzyme Activity Assay – in fibroblasts or muscle
- Metabolic Screening – newborn screening detects some cases
- Differential Diagnosis – other fatty acid oxidation disorders, mitochondrial myopathies
Early detection is crucial to prevent metabolic crisis and complications।
Multiple Acyl-CoA Dehydrogenase Deficiency इलाज (Treatment of Multiple Acyl-CoA Dehydrogenase Deficiency)
1. Riboflavin Supplementation (Vitamin B2)
- High-dose riboflavin often improves enzyme function
- Especially effective in late-onset MADD
2. Dietary Management
- Low-fat, high-carbohydrate diet
- Avoid fasting
- Supplementation with medium-chain triglycerides (MCT) if required
3. Management of Metabolic Crisis
- Hospitalization during acute episodes
- Intravenous glucose and hydration
- Correction of acidosis
4. Supportive Therapy
- Carnitine supplementation (improves fatty acid oxidation)
- Physical therapy for muscle weakness
- Regular monitoring of liver function and metabolic profile
Proper treatment improves quality of life and prevents life-threatening episodes।
रोकथाम (Prevention)
- Genetic counseling for affected families
- Avoid fasting and prolonged illness without medical supervision
- Early metabolic screening in newborns in high-risk populations
- Prompt treatment of metabolic stress events
सावधानियाँ (Precautions)
- Avoid prolonged fasting or high-fat meals
- Monitor for signs of hypoglycemia or muscle breakdown
- Regular follow-up with metabolic specialist
- Administer riboflavin and carnitine only under medical supervision
FAQs (अक्सर पूछे जाने वाले प्रश्न)
Q1. MADD curable है?
पूरी तरह cure नहीं है, लेकिन riboflavin, diet management और supportive care से symptoms control किए जा सकते हैं।
Q2. क्या यह genetic है?
हाँ, यह autosomal recessive inherited disorder है।
Q3. Adult-onset MADD अलग कैसे दिखती है?
Muscle weakness, exercise intolerance और episodic rhabdomyolysis common हैं; metabolic crisis rare।
Q4. Riboflavin treatment हर case में effective है?
Mostly late-onset cases में effective, infantile severe cases में partial response मिल सकता है।
निष्कर्ष (Conclusion)
Multiple Acyl-CoA Dehydrogenase Deficiency (मल्टीपल एसिल-कोए डिहाइड्रोजनेज़ डेफिशिएंसी) एक rare metabolic disorder है।
Early diagnosis, riboflavin therapy, dietary management और metabolic crisis prevention से patient का quality of life बेहतर किया जा सकता है।
यदि कोई muscle weakness, exercise intolerance, या hypoglycemic episodes दिखें, तो तुरंत metabolic specialist या geneticist से consultation करें।