2024
DOI: 10.5005/jp-journals-11002-0080
|View full text |Cite
|
Sign up to set email alerts
|

Organic Acidemias: Clinical Presentation in Neonates

Mario Motta,
Mohammad Mozibur Rahman,
Gayatri Athalye-Jape
et al.

Abstract: Organic acidemias (OAs) are heritable genomic abnormalities characterized by the absence or defects in critical enzyme(s), which result in the accumulation of abnormal and toxic organic acid metabolites. These metabolites can be detected in blood and/or urine in high levels. Organic acidemias can have severe clinical manifestations, where most patients become symptomatic within the neonatal period or early infancy. Mildly affected cases may present later during adolescence or adulthood following decompensation… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

0
0
0

Year Published

2024
2024
2024
2024

Publication Types

Select...
1

Relationship

0
1

Authors

Journals

citations
Cited by 1 publication
references
References 179 publications
0
0
0
Order By: Relevance