MCID: NRM021
MIFTS: 15

Neurometabolic Disorder Due to Serine Deficiency

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurometabolic Disorder Due to Serine Deficiency

MalaCards integrated aliases for Neurometabolic Disorder Due to Serine Deficiency:

Name: Neurometabolic Disorder Due to Serine Deficiency 58
Serine Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
neurometabolic disorder due to serine deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E72.8
Orphanet 58 ORPHA35705

Summaries for Neurometabolic Disorder Due to Serine Deficiency

MalaCards based summary : Neurometabolic Disorder Due to Serine Deficiency, also known as serine deficiency, is related to serine deficiency and phosphoserine aminotransferase deficiency. Affiliated tissues include liver, spinal cord and brain.

Related Diseases for Neurometabolic Disorder Due to Serine Deficiency

Diseases related to Neurometabolic Disorder Due to Serine Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 serine deficiency 11.3
2 phosphoserine aminotransferase deficiency 11.1
3 phosphoglycerate dehydrogenase deficiency 11.0
4 phosphoserine phosphatase deficiency 11.0
5 neu-laxova syndrome 1 11.0
6 neu-laxova syndrome 2 11.0
7 microcephaly 10.2
8 polyneuropathy 9.9
9 aging 9.7
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
11 non-alcoholic fatty liver disease 9.7
12 non-alcoholic steatohepatitis 9.7
13 toxic encephalopathy 9.7
14 liver disease 9.7
15 fatty liver disease 9.7
16 encephalopathy 9.7
17 spasticity 9.7

Graphical network of the top 20 diseases related to Neurometabolic Disorder Due to Serine Deficiency:



Diseases related to Neurometabolic Disorder Due to Serine Deficiency

Symptoms & Phenotypes for Neurometabolic Disorder Due to Serine Deficiency

Drugs & Therapeutics for Neurometabolic Disorder Due to Serine Deficiency

Search Clinical Trials , NIH Clinical Center for Neurometabolic Disorder Due to Serine Deficiency

Genetic Tests for Neurometabolic Disorder Due to Serine Deficiency

Anatomical Context for Neurometabolic Disorder Due to Serine Deficiency

MalaCards organs/tissues related to Neurometabolic Disorder Due to Serine Deficiency:

40
Liver, Spinal Cord, Brain

Publications for Neurometabolic Disorder Due to Serine Deficiency

Articles related to Neurometabolic Disorder Due to Serine Deficiency:

(show all 48)
# Title Authors PMID Year
1
Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression. 61
33750426 2021
2
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1. 61
32077105 2020
3
Phosphoserine aminotransferase deficiency: imaging findings in a child with congenital microcephaly. 61
30122079 2020
4
Serine is required for the maintenance of redox balance and proliferation in the intestine under oxidative stress. 61
32030825 2020
5
Serine Deficiency Exacerbates Inflammation and Oxidative Stress via Microbiota-Gut-Brain Axis in D-Galactose-Induced Aging Mice. 61
32189994 2020
6
Cerebral folate deficiency: Analytical tests and differential diagnosis. 61
30916789 2019
7
Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases. 61
29869166 2018
8
Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability. 61
29789193 2018
9
Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies. 61
29703746 2018
10
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. 61
29269105 2018
11
Serine prevented high-fat diet-induced oxidative stress by activating AMPK and epigenetically modulating the expression of glutathione synthesis-related genes. 61
29158183 2018
12
Weanling Offspring of Dams Maintained on Serine-Deficient Diet Are Vulnerable to Oxidative Stress. 61
30305866 2018
13
Amino acid synthesis deficiencies. 61
28653176 2017
14
Endogenous co-agonists of the NMDA receptor modulate contextual fear in trace conditioning. 61
27633914 2016
15
[Neu-Laxova syndrome: Three case reports and a review of the literature]. 61
27475004 2016
16
Serine biosynthesis and transport defects. 61
27161889 2016
17
Adaptive response to l-serine deficiency is mediated by p38 MAPK activation via 1-deoxysphinganine in normal fibroblasts. 61
27239443 2016
18
Two new cases of serine deficiency disorders treated with l-serine. 61
26610677 2016
19
Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures. 61
26589312 2016
20
L-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body Formation. 61
25903138 2015
21
Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. 61
25913727 2015
22
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. 61
25152457 2014
23
D-serine deficiency attenuates the behavioral and cellular effects induced by the hallucinogenic 5-HT(2A) receptor agonist DOI. 61
24269270 2014
24
Genome-scale metabolic modelling of hepatocytes reveals serine deficiency in patients with non-alcoholic fatty liver disease. 61
24419221 2014
25
Impaired D-serine-mediated cotransmission mediates cognitive dysfunction in epilepsy. 61
23926260 2013
26
An update on serine deficiency disorders. 61
23463425 2013
27
Pathogenic disruption of DISC1-serine racemase binding elicits schizophrenia-like behavior via D-serine depletion. 61
22801410 2013
28
L-serine deficiency caused by genetic Phgdh deletion leads to robust induction of 4E-BP1 and subsequent repression of translation initiation in the developing central nervous system. 61
23350942 2013
29
Amino acid synthesis deficiencies. 61
23622400 2013
30
Increased tyrosine in the brain and serum of mice by orally administering dipeptide SY. 61
23563534 2013
31
Microcephaly. 61
23622158 2013
32
Decreased susceptibility to seizures induced by pentylenetetrazole in serine racemase knockout mice. 61
22742962 2012
33
[Prenatal symptoms and diagnosis of inherited metabolic diseases]. 61
22884749 2012
34
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center. 61
22397043 2012
35
D-serine influences synaptogenesis in a p19 cell model. 61
23430939 2012
36
Disorders of amino acid metabolism associated with epilepsy. 61
21803516 2011
37
Brain-specific Phgdh deletion reveals a pivotal role for L-serine biosynthesis in controlling the level of D-serine, an N-methyl-D-aspartate receptor co-agonist, in adult brain. 61
20966073 2010
38
Fatal cerebral edema associated with serine deficiency in CSF. 61
20300853 2010
39
Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders. 61
20692860 2010
40
L-serine synthesis in the central nervous system: a review on serine deficiency disorders. 61
19963421 2010
41
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures. 61
20196394 2009
42
Impaired neurogenesis in embryonic spinal cord of Phgdh knockout mice, a serine deficiency disorder model. 61
19114063 2009
43
Inactivation of the 3-phosphoglycerate dehydrogenase gene in mice: changes in gene expression and associated regulatory networks resulting from serine deficiency. 61
18228065 2008
44
An essential role for de novo biosynthesis of L-serine in CNS development. 61
18296366 2008
45
Treatment with amino acids in serine deficiency disorders. 61
16763900 2006
46
Serine-deficiency syndromes. 61
15021249 2004
47
Continuing education in neurometabolic disorders--serine deficiency disorders. 61
10222452 1999
48
Distribution of insulin receptors between plasmalemma and intracellular compartments: effect of amino acids. 61
3917439 1985

Variations for Neurometabolic Disorder Due to Serine Deficiency

Expression for Neurometabolic Disorder Due to Serine Deficiency

Search GEO for disease gene expression data for Neurometabolic Disorder Due to Serine Deficiency.

Pathways for Neurometabolic Disorder Due to Serine Deficiency

GO Terms for Neurometabolic Disorder Due to Serine Deficiency

Sources for Neurometabolic Disorder Due to Serine Deficiency

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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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