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 57 75 6
Lipoyltransferase 2 Deficiency 57 75
Nelaba 57 75
Lipt2d 57 75
Encephalopathy, Neonatal, Severe, with Lactic Acidosis and Brain Abnormalities 40
Lipoyltransferase 2 Deficiency; Lipt2d 57
Lipoyl Transferase 2 Deficiency 59

Characteristics:

OMIM:

57
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:

32
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 : 57 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 : 75 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 eeg abnormality 32 HP:0002353
3 global developmental delay 32 HP:0001263
4 absent speech 32 HP:0001344
5 dystonia 32 HP:0001332
6 cerebral cortical atrophy 32 HP:0002120
7 increased serum lactate 32 HP:0002151
8 encephalopathy 32 HP:0001298
9 increased serum pyruvate 32 HP:0003542
10 spastic tetraparesis 32 HP:0001285
11 hyperalaninemia 32 HP:0003348
12 renal cortical cysts 32 HP:0000803
13 delayed myelination 32 HP:0012448
14 periventricular cysts 32 HP:0007109

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:

41
Brain

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

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:

75
# Symbol AA change Variation ID SNP ID
1 LIPT2 p.Leu30Pro VAR_080037 rs539962457
2 LIPT2 p.Leu105Arg VAR_080038
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 GRCh38 Chromosome 11, 74493390: 74493390
6 LIPT2 NM_001144869.2(LIPT2): c.314T> G (p.Leu105Arg) single nucleotide variant Likely pathogenic 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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11 DGIdb
17 ExPASy
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30 HGMD
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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