24 Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as "coarse."
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.