STORAGE DISORDER

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

5. SPECIFIC MANIFESTATIONS

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 + + + + + + +

15. DYOSTOSIS MULTIPLEX