NELABA
MCID: ENC050
MIFTS: 21

Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities (NELABA)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

MalaCards integrated aliases for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

Name: Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 58 76 6
Lipoyltransferase 2 Deficiency 58 76
Nelaba 58 76
Lipt2d 58 76
Encephalopathy, Neonatal, Severe, with Lactic Acidosis and Brain Abnormalities 41
Lipoyltransferase 2 Deficiency; Lipt2d 58
Lipoyl Transferase 2 Deficiency 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in infancy in 2 sibs
biochemical abnormalities are variable
two sibs and 1 unrelated patient (patient a) have been reported (last curated september 2017)


HPO:

33
encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities:
Onset and clinical course congenital onset


Classifications:



Summaries for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

OMIM : 58 NELABA is a severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. Some patients die in infancy (summary by Habarou et al., 2017). (617668)

MalaCards based summary : Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities, is also known as lipoyltransferase 2 deficiency. An important gene associated with Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities is LIPT2 (Lipoyl(Octanoyl) Transferase 2). Affiliated tissues include brain, and related phenotypes are seizures and eeg abnormality

UniProtKB/Swiss-Prot : 76 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities: An autosomal recessive disorder characterized by severe encephalopathy with neonatal onset, metabolic features including lactic acidosis, little or no psychomotor development, and brain abnormalities including cerebral atrophy, cysts, and white matter abnormalities.

Related Diseases for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Symptoms & Phenotypes for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Human phenotypes related to Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 eeg abnormality 33 HP:0002353
3 absent speech 33 HP:0001344
4 dystonia 33 HP:0001332
5 cerebral cortical atrophy 33 HP:0002120
6 increased serum lactate 33 HP:0002151
7 encephalopathy 33 HP:0001298
8 increased serum pyruvate 33 HP:0003542
9 spastic tetraparesis 33 HP:0001285
10 hyperalaninemia 33 HP:0003348
11 profound global developmental delay 33 HP:0012736
12 renal cortical cysts 33 HP:0000803
13 delayed myelination 33 HP:0012448
14 periventricular cysts 33 HP:0007109

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
dystonia
encephalopathy
spastic tetraparesis
delayed myelination
more
Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
poor feeding

Head And Neck Head:
microcephaly (patient a)

Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
increased serum pyruvate
increased serum alanine
increased serum glycine
absence of protein-bound lipoic acid
decreased activity of branched-chain ketoacid dehydrogenase (bckdh)
more
Muscle Soft Tissue:
hypotonia, axial, severe

Clinical features from OMIM:

617668

Drugs & Therapeutics for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities

Genetic Tests for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Anatomical Context for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

MalaCards organs/tissues related to Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

42
Brain

Publications for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Articles related to Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

# Title Authors Year
1
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. ( 28757203 )
2017

Variations for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

76
# Symbol AA change Variation ID SNP ID
1 LIPT2 p.Leu30Pro VAR_080037 rs539962457
2 LIPT2 p.Leu105Arg VAR_080038 rs119070385
3 LIPT2 p.Leu126Arg VAR_080039 rs753904927

ClinVar genetic disease variations for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LIPT2 NM_001144869.2(LIPT2): c.377T> G (p.Leu126Arg) single nucleotide variant Likely pathogenic rs753904927 GRCh38 Chromosome 11, 74493327: 74493327
2 LIPT2 NM_001144869.2(LIPT2): c.377T> G (p.Leu126Arg) single nucleotide variant Likely pathogenic rs753904927 GRCh37 Chromosome 11, 74204372: 74204372
3 LIPT2 NM_001144869.2(LIPT2): c.89T> C (p.Leu30Pro) single nucleotide variant Likely pathogenic rs539962457 GRCh38 Chromosome 11, 74493615: 74493615
4 LIPT2 NM_001144869.2(LIPT2): c.89T> C (p.Leu30Pro) single nucleotide variant Likely pathogenic rs539962457 GRCh37 Chromosome 11, 74204660: 74204660
5 LIPT2 NM_001144869.2(LIPT2): c.314T> G (p.Leu105Arg) single nucleotide variant Likely pathogenic rs1190703859 GRCh38 Chromosome 11, 74493390: 74493390
6 LIPT2 NM_001144869.2(LIPT2): c.314T> G (p.Leu105Arg) single nucleotide variant Likely pathogenic rs1190703859 GRCh37 Chromosome 11, 74204435: 74204435

Expression for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Search GEO for disease gene expression data for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities.

Pathways for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

GO Terms for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Sources for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

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