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Author : Dr. Rubanbalaji |

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Metabolic Disorders

Folder: Metabolic-Disorders

31 items under this folder.

May 12, 2026
Homocystinuria
May 12, 2026
Zellweger Syndrome (Cerebro-Hepato-Renal Syndrome)
May 12, 2026
Tay-Sach's Disease
May 12, 2026
Pompe's Disease
May 12, 2026
Lysosomal Storage Disorders
May 12, 2026
Glycogen Storage Disorders
May 12, 2026
Biotinidase Deficiency (Late onset Multiple Carboxylase Deficiency)
May 11, 2026
Phenylketonuria
May 11, 2026
Approach to IEM
May 11, 2026
Fatty Acid Oxidation Defect (FOAD)
May 11, 2026
Methylmalonic Acidemia (MMA)
May 11, 2026
Neonatal Screening for Metabolic Diseases
May 11, 2026
Ornithine Transcarbamylase (OTC) Deficiency
May 11, 2026
Urea Cycle Disorders
May 11, 2026
💡 Metabolic Disorders
May 11, 2026
Organic Acidemias
May 11, 2026
Kerb's Cycle Associated Disorders
May 11, 2026
Glycolysis associated disorders
May 11, 2026
Alkaptonuria
May 11, 2026
Isovaleric Acidemia
May 11, 2026
Maple Syrup Urine Disease
May 11, 2026
Tyrosinemia
Feb 16, 2026
X-Linked Adrenoleukodystrophy (X-ALD)
Feb 16, 2026
Von Gierke's Disease
Feb 16, 2026
Sphingolipidosis and Mucolipidosis
Feb 16, 2026
Niemann Pick Disease
Feb 16, 2026
Mucopolysaccharidosis (MPS)
Feb 16, 2026
MPS-2 Hunter Disease
Feb 16, 2026
MPS-1 Hurler Disease
Feb 16, 2026
Gaucher's Disease
Feb 16, 2026
Galactosemia

🌱 This is a Digital Garden. Notes are always growing and changing.

These notes are intended for educational purposes only and reflect my personal understanding of the subject. Please cross-reference with standard textbooks and current clinical guidelines.

Authored by Dr. Rubanbalaji 2026

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Folder: Metabolic-Disorders