Approach to storage disorder 1 (1)
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The document provides an overview of approaches to diagnosing and classifying various storage disorders, including lysosomal storage disorders, glycogen storage disorders, and mucopolysaccharidoses. It describes the characteristic signs and symptoms of different disorders such as Hurler syndrome, Fabry disease, and Gaucher disease. Enzyme deficiencies and manifestations are outlined to help clinicians identify various storage disorder types.
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Approach to storage disorder 1 (1)
- 1. APPROACH TO STORAGE DISORDER - Dr. Rukesh Chary -Under the guidance of
- 2. WHEN TO SUSPECT STORAGE DISORDER? LYSOSOMAL STORAGE DISORDER GLYCOGEN STORAGE DISORDER MUCOPOLYSACCHARI DOSIS INFANT age group GROWTH RETARDATION COARSE FACIES COARSE FACIES HEPATOMEGALY DYSOSTOSIS MULTIPLEX HEPATOSPLENOMEGAL Y HYPOGLYCEMIA CORNEAL CLOUDING MENTAL RETARDATION CIRRHOSIS MENTAL RETARDATION PERIPHERL NEUROTPATHY ↑LACTATE, CHOLESTEROL,TG,URI C ACID SHORT STATURE CHERRY RED SPOT in fundus; CORNEAL HYPOTONIA JOINT CONTRACTURES
- 3. HSM with Jaundice NEONATES/INFANTS Conjugated(liver disease) 1. Neonatal hepatitis syndrome 2. EHBD 3. Metabolic disease LBW HEPATOMEGALY + JAUNDICE 1. Galactosemia 2.Fructosemia 3. Alagille syndrome 4. Alpha 1 AT def HSM No Jaundice Niemann pick A & B With Jaundice TORCH Nieman pick C NORMAL WT. HSM Jaundice 1. Biliary atresia 2.Choledochal Cyst 3.Neonatal Hepatitis Hepatomegaly Hypoglycemia No jaundice 1.GSD I,II,IV 2. Tyrosinemia I Unconjugated(hemolytic disease) 1. Rh, ABO incompatibility 2. G6PD def.
- 4. GLYCOGENOSIS
- 6. LYSOSOMAL STORAGE DISORDERS 1. MUCOLIPIDOSIS 2. LIPID STORAGE DISORDERS 3. OLIGOSACCHARIDOSES
- 7. LYSOSOMAL STORAGE DISORDERS Urine GAGS/ oligosacceride s GAGS MPS Electrophor esis GAG analysis oligo Mucolipidosis GM1 GM2 Sialidosid Pompe’s No elevation High index of suspicion Fabry Farber Gauchers Nieman pick krabbe
- 8. MUCOLIPIDOSES II: I cell disease III:Pseudo-Hurler IV ENZYME DEFECT N-Acetyl glucosaminyl phosphotransferase N-Acetyl glucosaminyl phosphotransferase unknown HYDROPS FETALIS (+) COARSE FACIAL FEATURES DYSOSTOSIS MULTIPLEX ++ + HSM + (+) +
- 9. SS FABRY DISEASE FARBER D ENZYME # ALPHA GALACTOSIDASE CERAM HSM + _ CARDIAC INVOLVEMENT + ++ MENTAL DETERIORATION _ + CHERRY RED SPOT _ (+ CORNEAL CLOUDING + _ ANGIOKERATOMAS ++ _ PERIPHERAL NEUROPATHY _ +
- 10. GANGLIOSIDOSES GM1 GM2(TAY SACHS; SANDHOFF) ENZYME # B GALACTOSIDASE B HEXOSAMINIDASES A &B TYPES INFANTILE;JUVENILE;A DULT INFANTILE;JUVENILE;ADU LT CHARACTERI SED BY HSM MOTOR RETARDATION HSM+IN TAY SACHS SKELETAL DYSOSTOSIS SEIZURES CHERRY RED SPOT + ++
- 11. LSD GAUCHERS NIEMANN PICK TYPES I/II/III A/B/C ENZYME # B-GLUCOSIDASE ACID SPHINGOMYELINASE (INTACELLULAR CHOL TRANSPORT# in type C) ORGANOMEGALY HSM Massive splenomegaly HSM with moderate lymphadenopathy Bone pain with cytopenias> neuroregression Psychomotor retardation with neuroregression Cherry red spot - ++
- 12. PAINFUL JOINT SWELLING AND NODULE FORMATION IN FARBER DISEASE ANGIOKERATOM AS
- 13. METACHROMATIC LEUKO DYSTROPHY DEFICIENCY: ARYL SULFATASE –A Onset :infantile Presents with Irritability Inability to walk Hyperextension of knee Nystagmus/ optic atrophy Quadriparesis Seizures CHERRY RED SPOT ++
- 14. MPS CF I-H I-S II III IV VI VII MR + - + + - - +/- COARSE FEAT. + (+) + + - + +/- CORNEAL CLOUD + + - - +/- + +/- HSM + + + (+) - + + SHORT STAT. + (+) + - + + + DYSOSTOSIS MULTIPLEX + (+) + (+) + + + INCLUSIONS + (+) + + - + + MPS-URIA + + + + + + +
Editor's Notes
- 3