| Entry |
|
|---|
| Name |
Propionic acidemia |
|---|
| Supergrp |
Secondary hyperammonemia [DS: H01400] |
|---|
| Description |
Propionic acidaemia is caused by a deficiency of propionyl-CoA carboxylase which accumulates toxic compounds affecting brain metabolism.
|
|---|
| Category |
Inherited metabolic disorder
|
|---|
| Brite |
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H00175 Propionic acidemia
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06024 Valine, leucine and isoleucine degradation
H00175 Propionic acidemia
|
|---|
| Pathway |
| hsa00280 | Valine, leucine and isoleucine degradation |
|
|---|
| Network |
nt06024 Valine, leucine and isoleucine degradation |
|---|
| Gene |
|
|---|
| Other DBs |
|
|---|
| Reference |
|
|---|
| Authors |
Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G |
|---|
| Title |
Metabolomics identifies perturbations in human disorders of propionate metabolism. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C |
|---|
| Title |
Methylmalonic and propionic aciduria. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Ogier de Baulny H, Saudubray JM |
|---|
| Title |
Branched-chain organic acidurias. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
