INBORN ERRORS OF METABOLISM AND OTHER CONGENITAL & PEDIATRIC DISORDERS IN KOUMARABHRITYA

INBORN ERRORS OF METABOLISM AND OTHER CONGENITAL & PEDIATRIC DISORDERS IN KOUMARABHRITYA

INBORN ERRORS OF METABOLISM (IEM)

Inborn Errors of Metabolism are a group of rare genetic (hereditary) disorders in which the body cannot properly turn food into energy due to enzyme defects.

ETIOLOGY

• Congenital enzyme deficiencies

• Autosomal recessive or X-linked inherited disorders

• Defective metabolic pathways of amino acids, carbohydrates, fatty acids, or urea cycle

AYURVEDIC CORRELATION

• Beeja dosha (genetic mutation)

• Garbhaja vikriti (congenital deformity due to doshic imbalance in fetal stage)

• "Beeja bhaga avayava vikriti garbhasya vikritim janayati" – Charaka Samhita Sharira Sthana

TYPES (BASED ON METABOLIC DEFECT)

• Carbohydrate metabolism disorders: Galactosemia, Glycogen storage diseases

• Amino acid metabolism disorders: Phenylketonuria (PKU), Maple syrup urine disease

• Fatty acid oxidation disorders

• Urea cycle disorders

• Mitochondrial disorders

CLINICAL FEATURES

• Lethargy, vomiting, failure to thrive

• Seizures, developmental delay

• Unusual odor of urine or body

• Hepatomegaly, acidosis, hypoglycemia

DIAGNOSIS

• Tandem mass spectrometry (TMS)

• Gas chromatography-mass spectrometry (GC-MS)

• Serum ammonia, lactate, blood gas analysis

• Urine organic acid analysis

MANAGEMENT

• Early detection through newborn screening

• Dietary restriction of offending nutrient

• Enzyme replacement therapy

• Supportive care

CONGENITAL RUBELLA SYNDROME (CRS)

INTRODUCTION
CRS is caused when rubella virus infects the fetus through placental transmission, especially during the first trimester.

AYURVEDIC VIEW

• Garbha janya vyadhi due to krimi/jeevanu

• Influence of Dushta Rakta or Beeja dushti

SANSKRIT REFERENCE
"Garbhasya abhinirvrutti doshaat vikritir bhavet" – Kashyapa Samhita

CLINICAL FEATURES

• Sensorineural deafness

• Cataracts, congenital glaucoma

• Congenital heart defects (PDA, pulmonary artery stenosis)

• Microcephaly, mental retardation

• "Blueberry muffin" rash (dermal erythropoiesis)

DIAGNOSIS

• Maternal rubella IgM/IgG titres

• Infant IgM antibodies to rubella

• PCR for rubella RNA

PREVENTION

• Rubella vaccination (MMR) prior to pregnancy

CELIAC DISEASE

INTRODUCTION
An autoimmune condition triggered by ingestion of gluten in genetically predisposed individuals leading to intestinal mucosal damage.

AYURVEDIC CORRELATION

• Grahani Dosha

• "Grahani tu agnimandyaat dosha chapi samirita" – Ashtanga Hridaya

CLINICAL FEATURES

• Chronic diarrhea, steatorrhea

• Abdominal bloating, failure to thrive

• Iron deficiency anemia

• Short stature, irritability

DIAGNOSIS

• Anti-tTG (IgA) antibodies

• Duodenal biopsy showing villous atrophy

• HLA-DQ2/DQ8 genetic typing

TREATMENT

• Lifelong gluten-free diet

• Nutritional supplementation

SPINAL MUSCULAR ATROPHY (SMA)

INTRODUCTION
Genetic neuromuscular disorder causing degeneration of anterior horn cells in spinal cord leading to muscle wasting.

ETIOLOGY

• Autosomal recessive mutation in SMN1 gene

AYURVEDIC VIEW

• Mamsa kshaya, Vata vyadhi

• "Mamsa heenatvam dehasya shithilam cha pravartate" – Charaka Samhita

CLINICAL FEATURES

• Progressive muscle weakness

• Hypotonia (floppy baby)

• Absent deep tendon reflexes

• Feeding and breathing difficulties

DIAGNOSIS

• Genetic testing for SMN1 deletion

• EMG and nerve conduction studies

TREATMENT

• Nusinersen (antisense oligonucleotide therapy)

• Gene therapy (Zolgensma)

• Supportive care: physiotherapy, respiratory support

GUILLAIN-BARRÉ SYNDROME (GBS)

INTRODUCTION
An acute inflammatory demyelinating polyradiculoneuropathy often post-infectious, leading to ascending paralysis.

ETIOLOGY

• Autoimmune response following infections (Campylobacter jejuni, CMV)

AYURVEDIC CORRELATION

• Avarana vata or Sarvanga vata

• "Vata atipravatam yatra kampam cha janayatyasau" – Charaka Samhita

CLINICAL FEATURES

• Rapid onset symmetrical weakness

• Areflexia

• Respiratory muscle involvement

• Cranial nerve palsies

DIAGNOSIS

• CSF: albuminocytologic dissociation

• Nerve conduction studies

• MRI spine

TREATMENT

• IVIG or plasmapheresis

• Supportive ventilation if needed

SICKLE CELL ANEMIA

INTRODUCTION
Hereditary hemoglobinopathy due to mutation in beta-globin gene, leading to sickle-shaped RBCs.

AYURVEDIC VIEW

• Raktapradoshaja vyadhi, Pandu

• "Rakte doshat tridoshaja panduta jayate" – Charaka Samhita

CLINICAL FEATURES

• Anemia, jaundice

• Painful vaso-occlusive crises

• Splenomegaly, dactylitis

• Stroke, infections

DIAGNOSIS

• Hemoglobin electrophoresis

• Peripheral smear

• Sickle solubility test

MANAGEMENT

• Hydroxyurea

• Folic acid supplements

• Pain control

• Bone marrow transplant (curative)

WILSON’S DISEASE

INTRODUCTION
Autosomal recessive disorder of copper metabolism due to ATP7B gene mutation leading to copper accumulation in liver, brain, and eyes.

AYURVEDIC CORRELATION

• Yakrit vikara, Meda dushti, Manovikara

• "Meda mamsa rakta pitta yakrit pittashaya dushayati" – Ashtanga Hridaya

CLINICAL FEATURES

• Hepatic: hepatitis, cirrhosis

• Neurological: tremors, dysarthria

• Psychiatric: depression, personality changes

• Kayser-Fleischer rings in eyes

DIAGNOSIS

• Serum ceruloplasmin low

• 24hr urinary copper high

• Liver biopsy (copper quantification)

TREATMENT

• Chelating agents (D-penicillamine, Trientine)

• Zinc supplementation

• Liver transplant in severe cases

UTPULLIKA

AYURVEDIC DESCRIPTION

• A type of Balagraha involving sudden distension or protrusion of body parts, often associated with dosha vitiation.

SANSKRIT REFERENCE

• "Utpullika balasya shirasi sphotaka iva bhavet" – Kashyapa Samhita, Khilasthana

PRESENTATION

• Rapid swelling in head region

• Associated fever or delirium

• Possible correlation: pediatric abscess or cyst

MANAGEMENT

• Snehan, Swedan, Lekhana karma

• Internal medications: Haridra, Shunthi, Guggulu-based formulations

AJAGALLIKA

AYURVEDIC DESCRIPTION

• A type of Gala ganda in children presenting as hard swelling in the throat or neck region

SANSKRIT REFERENCE

• "Gala gande ajagallika granthi yukta drudhapidita" – Kashyapa Samhita

CLINICAL CORRELATION

• Could be related to enlarged lymph nodes, thyroglossal cyst or congenital goitre

TREATMENT

• Shothahara and Granthi hara chikitsa

• Guggulu, Kanchanara, Trikatu formulations

KUKUNAKA

AYURVEDIC DESCRIPTION

• Condition in infants where the uvula (taluka) is swollen, elongated or deviated causing difficulty in suckling

SANSKRIT REFERENCE

• "Talukasya unnati kukunaka lakshanam" – Kashyapa Samhita

MODERN CORRELATION

• Elongated uvula, uvulitis

SYMPTOMS

• Difficulty in breastfeeding

• Gagging or regurgitation

TREATMENT

• Local lekhana, pratisarana

• Use of honey with Haridra and Yashtimadhu

TALU KANTAKA

AYURVEDIC DESCRIPTION

• Refers to foreign body sensation or actual obstruction in the palate (talu) or throat (kantha)

SANSKRIT REFERENCE

• "Talu kantaka yadi kanthe kashtam janayati prashwashe" – Kashyapa Samhita

POSSIBLE MODERN CORRELATION

• Congenital oral cavity anomalies, cleft palate remnants, foreign body

MANAGEMENT

• Gentle removal if mechanical obstruction

• Local soothing herbs like Yashtimadhu, Shunthi