INT105794

Context Info Confidence 0.54 First Reported 2002 Last Reported 2008 Negated 0 Speculated 0 Reported most in Body Documents 2 Total Number 8 Disease Relevance 1.55 Pain Relevance 0.80

mitochondrion (Aldh5a1) oxidoreductase activity (Aldh5a1)

Anatomy Link Frequency amniotic fluid 1 Aldh5a1 (Mus musculus)

Pain Link Frequency Relevance Heat Neurotransmitter 28 98.72 gABA 357 96.88 imagery 23 79.20 Glutamate 35 40.92 GABAergic 21 38.40 palliative 7 27.20 Enkephalin 1 25.00 Substantia nigra 1 25.00 Dopamine 1 25.00 substance P 1 25.00

Disease Link Frequency Relevance Heat Convulsion 63 98.60 Epilepsy 7 97.16 Encephalopathy 14 88.36 Muscle Hypotonia 7 83.36 Ataxia 7 82.48 Poisoning 2 75.04 Congenital Anomalies 42 57.12 Dystonia 2 37.68 Hypokinesia 1 35.44 Stress 7 30.64

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Our data for DHHA, a species unique to Aldh5a1 deficiency, were also revealing.

Negative_regulation (deficiency) of Aldh5a1

1) Confidence 0.54 Published 2008 Journal BMC Dev Biol Section Body Doc Link PMC2642797 Disease Relevance 0.06 Pain Relevance 0.03

Data on motor behavioural disorders induced by systemic 3-nitropropionic acid, an irreversible inhibitor of mitochondrial succinate dehydrogenase and their histopathological correlates in mice, are sparse.

Negative_regulation (inhibitor) of mitochondrial succinate dehydrogenase

2) Confidence 0.42 Published 2002 Journal Neuroscience Section Abstract Doc Link 12379255 Disease Relevance 0.15 Pain Relevance 0.04

A cardinal manifestation of SSADH deficiency is hyperintense signals in the globi pallidi bilaterally.

Negative_regulation (deficiency) of SSADH

3) Confidence 0.39 Published 2008 Journal BMC Dev Biol Section Body Doc Link PMC2642797 Disease Relevance 0.07 Pain Relevance 0.15

Succinic semialdehyde dehydrogenase (SSADH) deficiency (aldehyde dehydrogenase 5a1 (Aldh5a1); E.C. 1.2.1.24; OMIM 271980, 610045) is a rare neurometabolic defect of the GABA catabolic pathway (Fig. 1).

Negative_regulation (deficiency) of Aldh5a1 associated with gaba

4) Confidence 0.39 Published 2008 Journal BMC Dev Biol Section Body Doc Link PMC2642797 Disease Relevance 0.43 Pain Relevance 0.08

The same metabolites were quantified in amniotic fluid specimens submitted for prenatal diagnosis in pregnancies at-risk for Aldh5a1 deficiency.

Negative_regulation (deficiency) of Aldh5a1 in amniotic fluid

5) Confidence 0.39 Published 2008 Journal BMC Dev Biol Section Body Doc Link PMC2642797 Disease Relevance 0 Pain Relevance 0.10

Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development Background

Negative_regulation (deficiency) of SSADH associated with neurotransmitter

6) Confidence 0.39 Published 2008 Journal BMC Dev Biol Section Title Doc Link PMC2642797 Disease Relevance 0.32 Pain Relevance 0.18

Succinic semialdehyde dehydrogenase (SSADH) deficiency (aldehyde dehydrogenase 5a1 (Aldh5a1); E.C. 1.2.1.24; OMIM 271980, 610045) is a rare neurometabolic defect of the GABA catabolic pathway (Fig. 1).

Negative_regulation (deficiency) of SSADH associated with gaba

7) Confidence 0.39 Published 2008 Journal BMC Dev Biol Section Body Doc Link PMC2642797 Disease Relevance 0.42 Pain Relevance 0.08

We recently identified a 19 year-old patient with SSADH deficiency who, having experienced recurrent seizures for 6 years, died suddenly and unexpectedly [27].

Negative_regulation (deficiency) of SSADH associated with convulsion

8) Confidence 0.39 Published 2008 Journal BMC Dev Biol Section Body Doc Link PMC2642797 Disease Relevance 0.10 Pain Relevance 0.14

General Comments

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