Template:Amino acid metabolic pathology: Difference between revisions

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{{Navbox
{{Navbox
| name  = Amino acid metabolic pathology  
| name  = Amino acid metabolic pathology
| title = [[Inborn error of metabolism|Inborn errors]] of [[inborn errors of amino acid metabolism|amino acid metabolism]] ([[ICD-10_Chapter_IV:_Endocrine%2C_nutritional_and_metabolic_diseases#.28E70-E72.29_Amino-acids|E70-72]], [[List_of_ICD-9_codes_240-279:_Endocrine%2C_nutritional_and_metabolic_diseases%2C_and_immunity_disorders#other_metabolic_and_immunity_disorders_.28270-279.29|270]])
| title = [[Inborn error of metabolism|Inborn error]] of [[inborn errors of amino acid metabolism|amino acid metabolism]] ([[ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases#(E70–E72) Amino-acids|E70–E72]], [[List of ICD-9 codes 240–279: endocrine, nutritional and metabolic diseases, and immunity disorders#Other metabolic and immunity disorders (270–279)|270]])
| listclass = hlist
| state = {{{state|autocollapse}}}
| state = {{{state|autocollapse}}}
| titlestyle = background:Silver


| group1 = [[Ketogenic amino acid|K]]
| group1 = [[Ketogenic amino acid|K]]→[[acetyl-CoA]]
|  list1 = {{Navbox subgroup
|  list1 = {{Navbox|subgroup


   | group1 = [[Lysine]]/straight chain
   | group1 = [[Lysine]]/straight chain
   |  list1 = [[Glutaric aciduria type 1|Glutaric acidemia type 1]] - [[Glutaric acidemia type 2|type 2]] - [[Hyperlysinemia]] - [[Pipecolic acidemia]] - [[Saccharopinuria]]
   |  list1 =
* [[Glutaric aciduria type 1|Glutaric acidemia type 1]]
* [[Glutaric acidemia type 2|type 2]]
* [[Hyperlysinemia]]
* [[Pipecolic acidemia]]
* [[Saccharopinuria]]


   | group2 = [[Leucine]]
   | group2 = [[Leucine]]
   | list2  = [[Maple syrup urine disease]] - [[Isovaleric acidemia]] - [[3-Methylcrotonyl-CoA carboxylase deficiency]] - [[3-hydroxy-3-methylglutaryl-CoA lyase deficiency]]
   | list2  =
* [[3-hydroxy-3-methylglutaryl-CoA lyase deficiency]]
* [[3-Methylcrotonyl-CoA carboxylase deficiency]]
* [[3-Methylglutaconic aciduria|3-Methylglutaconic aciduria 1]]
* [[Isovaleric acidemia]]
* [[Maple syrup urine disease]]
 
| group3 = [[Tryptophan]]
|  list3 =
* [[Hypertryptophanemia]]


}}
}}


| group2 = [[Glucogenic amino acid|G]]→[[pyruvate]]
| group2 = [[Glucogenic amino acid|G]]
|  list2 = {{Navbox subgroup
|  list2 = {{Navbox|subgroup
 
| group1 = G→[[pyruvate]]→[[citrate]]
| list1 = {{Navbox|subgroup


   | group1 = [[Glycine]]
   | group1 = [[Glycine]]
   |  list1 = [[Sarcosinemia]] - [[D-Glyceric acidemia]] - [[Glutathione synthetase deficiency]]
   |  list1 =
* [[D-Glyceric acidemia]]
* [[Glutathione synthetase deficiency]]
* [[Sarcosinemia]]
 
* [[Glycine]]→[[Creatine]]: [[Guanidinoacetate methyltransferase deficiency|GAMT deficiency]]
* [[Glycine encephalopathy]]


}}
}}


| group3 = G→[[alpha-ketoglutarate]]
| group3 = G→[[glutamate]]→<br />[[alpha-Ketoglutaric acid|α-ketoglutarate]]
|  list3 = {{Navbox subgroup
|  list3 = {{Navbox|subgroup


   | group2 = [[Glutamate]]/[[glutamine]]
   | group1 = [[Histidine]]
  |  list2 = [[Succinic semialdehyde dehydrogenase deficiency|SSADHD]]
  |  list1 =
* [[Carnosinemia]]
* [[Histidinemia]]
* [[Urocanic aciduria]]


   | group3 = [[Proline]]
   | group2 = [[Proline]]
   |  list3 = [[Hyperprolinemia]] - [[Prolidase deficiency]]
   |  list2 =
* [[Hyperprolinemia]]
* [[Prolidase deficiency]]


   | group4 = [[Histidine]]
   | group3 = [[Glutamate]]/[[glutamine]]
   |  list4 = [[Carnosinemia]] - [[Histidinemia]] - [[Urocanic aciduria]]
   |  list3 =
* [[Succinic semialdehyde dehydrogenase deficiency|SSADHD]]


}}
}}


| group4 = G→[[succinyl-CoA]]
| group4 = G→[[propionyl-CoA]]→<br />[[succinyl-CoA]]
|  list4 = {{Navbox subgroup
|  list4 = {{Navbox|subgroup


   | group5 = [[Methionine]]
   | group1 = [[Valine]]
   |  list5 = [[Hypermethioninemia]] - [[Homocystinuria]] - [[Cystathioninuria]]  
   | list1 =
* [[Hypervalinemia]]
* [[Isobutyryl-coenzyme A dehydrogenase deficiency|Isobutyryl-CoA dehydrogenase deficiency]]
* [[Maple syrup urine disease]]


   | group6 = [[Valine]]
   | group2 = [[Isoleucine]]
   | list6 = [[Maple syrup urine disease]] - [[Hypervalinemia]] - [[Isobutyryl-coenzyme A dehydrogenase deficiency|Isobutyryl-CoA dehydrogenase deficiency]]
   | list2 =
* [[2-Methylbutyryl-CoA dehydrogenase deficiency]]
* [[Beta-ketothiolase deficiency]]
* [[Maple syrup urine disease]]


   | group7 = [[Isoleucine]]
   | group3 = [[Methionine]]
   | list7 = [[Maple syrup urine disease]] - [[Beta-ketothiolase deficiency]] - [[2-Methylbutyryl-CoA dehydrogenase deficiency]]
   |  list3 =
* [[Cystathioninuria]]
* [[Homocystinuria]]
* [[Hypermethioninemia]]


  | group8 = General [[branched-chain amino acids|BC]]/[[organic acidemia|OA]]
  | group4 = General [[branched-chain amino acids|BC]]/[[organic acidemia|OA]]
  |  list8 = [[Propionic acidemia]] - [[Methylmalonic acidemia]]
  |  list4 =
* [[Methylmalonic acidemia]]
* [[Methylmalonyl-CoA mutase deficiency]]
* [[Propionic acidemia]]


}}
}}


| group5 = G→[[fumarate]]
| group5 = G→[[fumarate]]
|  list5 = {{Navbox subgroup
|  list5 = {{Navbox|subgroup


   | group7 = [[Phenylalanine]]/[[tyrosine]]
   | group7 = [[Phenylalanine]]/[[tyrosine]]
   |  list7 = [[Phenylketonuria]] - [[Alkaptonuria]] - [[Ochronosis]] - [[Tyrosinemia]] ([[Hawkinsinuria]])<BR>[[Tetrahydrobiopterin deficiency]]
   |  list7 = {{Navbox|subgroup
 
| group1 = [[Phenylketonuria]]
| list1  =
* [[6-Pyruvoyltetrahydropterin synthase deficiency]]
* [[Tetrahydrobiopterin deficiency]]
 
| group2 = [[Tyrosinemia]]
| list2  =
* [[Alkaptonuria]]/[[Ochronosis]]
* [[Type I tyrosinemia]]
* [[Tyrosinemia type II|Type II tyrosinemia]]
* [[Tyrosinemia type III|Type III tyrosinemia]]/[[Hawkinsinuria]]
 
|group3  = [[Tyrosine]]→[[Melanin]]
|list3  =
* [[Albinism]]: [[Ocular albinism]] ([[Ocular albinism type 1|1]])
* [[Oculocutaneous albinism]] ([[Hermansky–Pudlak syndrome]])
* [[Waardenburg syndrome]]
 
|group4  = [[Tyrosine]]→[[Norepinephrine]]
|list4  =
* [[Dopamine beta hydroxylase deficiency]]
* reverse: [[Brunner syndrome]]
 
}}


}}
}}


| group6 = G→[[oxaloacetate]]
| group6 = G→[[Oxaloacetic acid|oxaloacetate]]
|  list6 = {{Navbox subgroup
|  list6 = {{Navbox|subgroup


   | group9 = [[Urea cycle disorder|Urea cycle]]/[[Hyperammonemia]]<BR>([[arginine]], [[aspartate]])
   | group9 = [[Urea cycle disorder|Urea cycle]]/[[Hyperammonemia]]<br />([[arginine]]
   |  list9 = [[N-Acetylglutamate synthase deficiency]] - [[Carbamoyl phosphate synthetase I deficiency]] - [[Ornithine transcarbamylase deficiency]]/[[Ornithine translocase deficiency|translocase deficiency]] - [[Citrullinemia]] - [[Argininosuccinic aciduria]] - [[Argininemia]]
* [[aspartate]])
   |  list9 =
* [[Argininemia]]
* [[Argininosuccinic aciduria]]
* [[Carbamoyl phosphate synthetase I deficiency]]
* [[Citrullinemia]]
* [[N-Acetylglutamate synthase deficiency]]
* [[Ornithine transcarbamylase deficiency]]/[[Ornithine translocase deficiency|translocase deficiency]]


}}
}}


| group8 = [[Amino acid transport disorder|Transport]]
}}
|  list8 = [[Cystinuria]] - [[Hartnup disease]] - [[Oculocerebrorenal syndrome]] - [[Lysinuric protein intolerance]] - [[Inborn errors of renal tubular transport]] ([[Cystinosis]], [[Fanconi syndrome]])


| group9 = [[Tyrosine]]→[[Melanin]]
| group8 = [[Amino acid transport disorder|Transport]]/<br />[[Inborn errors of renal tubular transport|IE of RTT]]
|  list9 = [[Albinism]]: [[Ocular albinism]] - [[Oculocutaneous albinism]] ([[Hermansky-Pudlak syndrome]]) - [[Waardenburg syndrome]]
|  list8 =
* [[Solute carrier family]]: [[Cystinuria]]
* [[Hartnup disease]]
* [[Iminoglycinuria]]
* [[Lysinuric protein intolerance]]


| group10 = [[Glycine]]→[[Creatine]]
* [[Fanconi syndrome]]: [[Oculocerebrorenal syndrome]]
|  list10 = [[Guanidinoacetate methyltransferase deficiency|GAMT deficiency]]
* [[Cystinosis]]


| group11 = Other
| group12 = Other
|  list11 = [[Trimethylaminuria]] - [[2-Hydroxyglutaric aciduria]] - [[Fumarase deficiency]]  
|  list12 =
* [[2-Hydroxyglutaric aciduria]]
* [[Aminoacylase 1 deficiency]]
* [[Ethylmalonic encephalopathy]]
* [[Fumarase deficiency]]
* [[Trimethylaminuria]]


| group12 =
}}<noinclude>
|  list12 = ''see also [[Template:Amino acid metabolism enzymes|Amino acid metabolism enzymes]], [[Template:Urea cycle enzymes|Urea cycle enzymes]], [[Template:Amino acid metabolism intermediates|intermediates]]''
{{collapsible option}}
 
[[Category:Amino acid metabolism disorders]]
}}
[[Category:Metabolic disorder templates]]
<includeonly></includeonly>
<noinclude>


[[Category:Medicine templates|{{PAGENAME}}]]
</noinclude>
</noinclude>

Latest revision as of 18:22, 31 August 2017

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