Sandbox : anmol: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
No edit summary
 
(67 intermediate revisions by 3 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Glycogen storage disease}}


{{CMG}}; {{AE}} {{Anmol}}
{{CMG}}; {{AE}} {{Anmol}}
==Glycogen storage disease==


==Tables==
{| class="wikitable"
{| class="wikitable"
! colspan="3" rowspan="2" |Glycogen storage disease
|+
! rowspan="2" |Enzyme deficiency
!Diagnosis
! colspan="3" |Genetics
!Lab findings
! colspan="2" |History and symptoms
!
! colspan="2" |Physical examination
!
!Laboratory findings
!Imaging
! rowspan="2" |Other features
|-
|-
!Gene mutation
!
!Inheritance
!
!Chromosome
!
!Hypoglycemia
!
!Muscle weakness
!Hypotonia
!Hepatomegaly
!Elevated CK
!Cardiomegaly
|-
|-
| rowspan="2" |Glycogen storage disease type I
| rowspan="2" |Von Gierke's disease
|GSD type Ia
|Glucose-6-phosphatase
|[[G6PC]] [[gene mutation]] 
|Autosomal recessive
|17q21
| rowspan="2" | +
| rowspan="2" | +
| rowspan="2" | +
| rowspan="2" | +
| rowspan="2" | -
| rowspan="2" | -
| rowspan="2" |
* Lactic acidosis
* Hyperlipidemia
* Hyperuricemia
|-
|GSD type Ib
| [[Microsomal]] [[glucose-6-phosphate]] [[Membrane transport protein|transporter]]
| [[SLC37A4]] [[gene mutation]]
|Autosomal recessive
|11q23
|-
| rowspan="2" |Glycogen storage disease type II
| rowspan="2" |Pompe disease
|Infantile onset
| rowspan="2" |Alpha acid-glucosidase
| rowspan="2" |GAA gene
|Autosomal recessive
| rowspan="2" |17q25
| -
| +
| +
| +
| +
| +
| rowspan="2" |
* Elevated LDH
* Elevated liver aminotransferases
* Elevated urinary glc4
|-
|Late onset
|Autosomal recessive
| -
| +
| +
| +
| +
| +/-
|-
| rowspan="2" |Glycogen storage disease type III
| rowspan="2" |Cori disease
|GSD type IIIa
|Debranching enzyme (deficiency in muscle and liver)
| rowspan="2" |AGL [[gene mutation]] 
|Autosomal recessive
| rowspan="2" |1p21
| rowspan="2" | +
| rowspan="2" | +
| rowspan="2" | -
| rowspan="2" | +
| rowspan="2" | +
| rowspan="2" | +
| rowspan="2" |
* Ketosis
* Hyperlipidemia
* Elevated liver aminotransferases
|-
|GSD type IIIb
|Debranching enzyme (deficiency in liver only)
|Autosomal recessive
|-
|Glycogen storage disease type IV
|Andersen's disease
|
|
|Branching enzyme
| GBE1 gene mutation
|Autosomal recessive
|3p12
| +
| +
| -
| +
| +
| +
| -
|-
|Glycogen storage disease type V
| colspan="2" |McArdle disease
|Muscle glycogen phosphorylase
|PYGM gene mutation
|Autosomal recessive
|11q13
| -
| +
| -
| -
| +
| -
|
|
* Myoglobuminuria, may result in renal failure
|-
| rowspan="2" |Glycogen storage disease type VI
| rowspan="2" |Hers' disease
|Autosomal
| rowspan="2" |Liver glycogen phosphorylase
| PYGL gene mutation
|Autosomal recessive
|14q22
| rowspan="2" | +/-
| rowspan="2" | +
| rowspan="2" |+/-
| rowspan="2" | +
| rowspan="2" | -
| rowspan="2" | -
| rowspan="2" |
* Hyperlipidemia
* Elevated liver aminotransferases
|-
|X-linked
|
|
|X-linked recessive
|
|
|-
|-
|Glycogen storage disease type VII
| colspan="2" |Tauri's disease
|Muscle phosphofruktokinase
|PFKM gene mutation
|Autosomal recessive
|12q13
| +
| +
| -
| -
| +
| +
|
|
* [[Reticulocyte|Reticulocytosis]]
* [[Hyperuricemia]]
* [[Myoglobinuria]]
* [[Hemolytic anemia]]
|-
| colspan="2" rowspan="2" |Glycogen storage disease type IX
|GSD type IXa
|Phosphorylase b kinase (deficiency in liver only)
|PHKA2 gene mutation
|X-linked recessive
|Xp22
| +
| -
| -
| +
| -
| -
|
|
* Hyperlipidemia
* Elevated liver aminotransferases
* Hyperuricemia
* Fasting ketosis
|-
|GSD type IXb
|Phosphorylase b kinase (deficiency in liver and muscle)
|PHKB gene mutation
|Autosomal recessive
|16q12
| +
| -
| -
| +
| -
| -
|
|
* Hyperlipidemia
* Elevated liver aminotransferases
|-
| colspan="3" |Glycogen storage disease type X
|Phosphoglycerate mutase
|PGAM2 gene mutation
|Autosomal recessive
|7p13
| -
| -
| -
| -
| +
| -
|
|
* Myoglobinuria
* Gout (tophy)
* Severe coronary arteriosclerosis
|-
|-
|Glycogen storage disease type XI
| colspan="2" |Lactate dehydrogenase A deficiency
|LDH A deficiency
|LDHA gene mutation
|Autosomal recessive
|11p15
| -
| -
| -
| -
| +
| -
|
|
* Muscle stiffness
* Lactic acidosis
* Myoglobinuria
* Easy fatigue
|-
|Glycogen storage disease type XII
| colspan="2" |Aldolase A deficiency
|Aldolase A
|ALDOA gene mutation
|Autosomal recessive
|16p11
| -
| +
| -
| +
| -
| -
|
|
* Hemolytic anemia
* Splenomegaly
|-
| colspan="3" |Glycogen storage disease type XIII
|Beta-enolase
| ENO3 gene mutation
|Autosomal recessive
|17p13
| -
| +
| -
| -
| +
| -
| -
|-
| colspan="3" |Glycogen storage disease type XIV
|Phosphoglucomutase type 2
|PGM1 gene mutation
|Autosomal recessive
|1p31
| +/-
| +
| -
| -
| +
| -
|
|
* Elevated liver aminotransferases
|-
|Glycogen storage disease type 0
| colspan="2" |Lewis' disease
|Hepatic glycogen synthase
| GYS1 gene mutation (muscle)
GYS2 gene mutation (liver)
|Autosomal recessive
|12p12
| +
| -
| -
| -
| -
| -
|
|
* Fasting hypoglycemia and ketosis
* Postprandial hyperglycemia and lactic acidosis
|}
|}
==References==
==References==
{{reflist|2}}
{{reflist|2}}

Latest revision as of 17:32, 14 January 2019


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Tables

Diagnosis Lab findings

References

Retrieved from "https://www.wikidoc.org/index.php?title=Sandbox_:_anmol&oldid=1535562"