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Similar to Approach to storage disorder 1 (1) (20)
Approach to storage disorder 1 (1)
- 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.
- 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 - ++
- 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 + + + + + + +