Glycogen Storage Disease

Number	Enzyme deficiency	Eponym	Hepato megaly	Muscle symptoms	Develop- ment/ prognosis	Other symptoms
GSD type I	glucose-6- phosphatase	von Gierke's disease	Yes	None	Growth failure	Lactic acidosis, hyperuri- cemia
GSD type II	acid maltase	Pompe's disease	Yes	Muscle weakness	Death by 2 years (infantile variant)	heart failure
GSD type III	glycogen debrancher	Cori's disease or Forbes' disease	Yes	Myopathy
GSD type IV	glycogen branching enzyme	Andersen disease	Yes, also cirrhosis	None	Failure to thrive, death at ~5 years
GSD type V	muscle glycogen phospho-rylase	McArdle disease	No	Exercise induced cramps Rhabdo-myolysis		Renal failure by myoglobin- uria
GSD type VI	Liver -glycogen phospho-rylase	Hers' disease	Yes	None
GSD type VII	muscle phospho- fructokinase	Tarui's disease	No	Exercise- induced muscle cramps and weakness	growth retardation	Haemo-lytic anaemia
GSD type IX	Phospho-rylase kinase, PHKA 2	–	No	None	Delayed motor develop-ment, Growth retarda- tion
GSD type XI	glucose transporter, GLUT 2	Fanconi- Bickel syndrome	Yes	None

 

• Hyperlipidemia is seen in GSD Type I,III and IX.
  
• Hypoglycemia is seen in GSD Type I,III,VI,XI.

Chromosome & Disease

• Chromosome 1...Rh system / neuroblastoma


• Chromosome 2...cystinuria/hypobetalipoproteinemia


• Chromosome 3...RCC/ALKAPTONURIA


• Chromosome 4...huntingtons chorea/achondroplasia/parkinsons disease


• chromosome 5..FAP/colorectal ca/cri du chat syndrome


• chromosome 6...HLA system /MHA antigen/DM


• chromosome 7...Cystic fibrosis


• chromosome 8...osteoporosis


• chromosome 9...ABO blood group / friedreich's ataxia


• chromosome 10..Apert syndrome Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 1 Charcot-Marie-Tooth disease, type 4 Cockayne syndrome congenital erythropoietic porphyria Cowden syndrome Crouzon syndrome Hirschprung disease multiple endocrine neoplasia type 2 Pfeiffer syndrome porphyri Usher syndrome Usher syndrome type I Wolman syndrome


• chromosome 11..sickle cell anaemia/beta thallasemia/wilms tumour/MEN -1/ataxia telengiectasia/human insulin gene/PTH gene


• chromosome 12...PKU/vWF/CA testes


• chromosome 13..retinoblastoma/osteosarcoma/wilsons ds


• chromosome 14..familial HOCM/ alpha 1 antitripsin deficiency


• chromosome 15..marfan's syndrome/albinism/pradder willi syndrome/angelman syndrome


• chromosome 16..alpha thallasemia/adult PKD


• chromosome 17..ca breast/medulloblastoma/neurofibromatosis-1/ovarian tumour/ P 53 gene


• chromosome 18..erythropoietic protoporphyria hereditary hemorrhagic telangiectasia Niemann-Pick disease/Type C porphyria Selective Mutism Edwards syndrome (Trisomy 18)


• chromosome 19..myotonia dystrophica/gene for insulin receptor


• chromosome 20..MODY type 1 DM/prions disease


• chromosome 21..homocystinuria/amyloidosis...folic acid transport..


• chromosome 22..meningioma/acoustic neuroma/NF -2/Di-George syndrome


• chromosome Xq..gene for androgen insensitivity syndrome/ fragile X syndrome/ Testicular feminisation/ X-SCID/ X linked agaamaglobulinemia/ Fabry ds/ Lesch- Nyhan/ Hemophilia B/ Hemophilia A/ Hunter syndrome/ G6PD deficiency


• chromosome Xp - Ocular albinism/ Chr Granulomatous Ds/ DMD/ Menkes syndrome