GLYCOGEN STORAGE DISEASES

Name and Type Deficiency Glucose Signs

Von Gierke (Ia) Glucose-6- ↑ glycogen Hypoglycemia Hyperlipidemia
phosphatase Hyperuricemia
Lactic acidosis
Ketosis
Pompe (II) Lysosomal acid ↑ glycogen Normoglycemia Cardiac pump failure
maltase Death at 2years old
a(1,4) glucosidase
Cori (IIIa) Debranching enzyme ↑ limit dextrins Hypoglycemia Muscle weakness
Hepatomegaly
Andersen (IV) Branching enzyme ↓ glycogen Normoglycemia Liver or Heart failure
Infantile hypotonia
Early death
McArdle Muscle ↑ muscle glycogen Normoglycemia Poor exercise
phosphorylase tolerance
NO lactic acidosis
Myoglobinuria
Hers (VI) Liver phosphorylase ↓ liver glycogen Hypoglycemia Hepatomegaly
Cirrhosis
 MUCOPOLYSACCHARIDOSES
Name and Type Deficiency Primary signs Other signs
Hurler (I-AR) a-L-iduronidase Mental retardation Corneal clouding
Hepatosplenomegaly
Hunter (II-X) Iduronate sulfatase Mental retardation
San Fillipo (III-AR) A: heparan sulfate N Mental retardation Hyperactivity
sulfatase
B: N-acetyl
glucosaminidase
C: a-glucosaminiase
NAT
D: N-
acetylglucosamine 6
sulfate
Morquio (IV-AR) A: Galactose 6 Corneal clouding
sulfatase
B: B-galactosidase
Sly (VII-AR) B-glucoronidase Mental retardation Corneal clouding
Hepatosplenomegaly Skeletal dysplasia
 LYSOSOMAL STORAGE DISEASES
Name Deficiency Accumulated Primary signs Other sign
Tay Sach (AR) Hexosaminidase A ↑GM2 ganglioside Mental retardation
Cherry red spot
Niemann-pick (AR) Sphingomyelinase ↑sphingomyelin Mental retardation Hepatosplenomegaly
Cherry red spot “Foam cell
macrophages”
Gaucher (AR) B-glucosidase ↑glucocerebroside Mental retardation Hepatosplenomegaly
Glucocerebrosidase Pancytopenia
Osteoporosis/ bone
crisis
Avascular necrosis of
femur
“lipid laden
macrophages
-crumpled tissue
paper”
Fabry (X) a-galactosidase ↑ceramide Kidney and heart Rashes
↑globotriaosylceramid failure Dry skin/burning skin
e
Metachromatic Arylsulfatase A Mental retardation Paralysis
leukodystrophy (AR) Ataxia
Dementia
Krabbe (AR) b-galactosidase ↑galactocerebroside Mental retardation Myelin loss
Multinucleated
macrophages (PAS+)
Optic atrophy
Farber (AR) Ceramidase Mental retardation Joint deformity