LIH
MCID: HYP782
MIFTS: 28

Hypoglycemia, Leucine-Induced (LIH)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypoglycemia, Leucine-Induced

MalaCards integrated aliases for Hypoglycemia, Leucine-Induced:

Name: Hypoglycemia, Leucine-Induced 57 71
Leucine-Induced Hypoglycemia 73 29 6 39 17
Leucine-Sensitive Hypoglycemia of Infancy 57 20 73
Hypoglycemia of Infancy, Leucine-Sensitive 57 13
Lih 57 73
Familial Infantile Hypoglycemia Precipitated by Leucine 20
Hypoglycemia Leucine Induced 20
Hypoglycemia Leucine-Induced 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
hypoglycemia, leucine-induced:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypoglycemia, Leucine-Induced

UniProtKB/Swiss-Prot : 73 Leucine-induced hypoglycemia: Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.

MalaCards based summary : Hypoglycemia, Leucine-Induced, also known as leucine-induced hypoglycemia, is related to acute insulin response and hyperinsulinism, and has symptoms including muscle spasticity An important gene associated with Hypoglycemia, Leucine-Induced is ABCC8 (ATP Binding Cassette Subfamily C Member 8). Affiliated tissues include pancreatic islet, and related phenotypes are intellectual disability and spasticity

Wikipedia : 74 Leucine-sensitive hypoglycemia of infancy is a type of metabolic disorder. It is inherited in an... more...

More information from OMIM: 240800

Related Diseases for Hypoglycemia, Leucine-Induced

Diseases related to Hypoglycemia, Leucine-Induced via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acute insulin response 10.1
2 hyperinsulinism 10.1
3 hypoglycemia 10.1
4 insulinoma 10.0
5 adenoma 10.0
6 triiodothyronine receptor auxiliary protein 10.0

Graphical network of the top 20 diseases related to Hypoglycemia, Leucine-Induced:



Diseases related to Hypoglycemia, Leucine-Induced

Symptoms & Phenotypes for Hypoglycemia, Leucine-Induced

Human phenotypes related to Hypoglycemia, Leucine-Induced:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 spasticity 31 HP:0001257
3 hyperreflexia 31 HP:0001347
4 ataxia 31 HP:0001251
5 hypoglycemia 31 HP:0001943
6 strabismus 31 HP:0000486
7 irritability 31 HP:0000737
8 coma 31 HP:0001259
9 hyperinsulinemic hypoglycemia 31 HP:0000825
10 drowsiness 31 HP:0002329
11 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
irritability
coma
drowsiness
mental retardation
more
Abdomen Pancreas:
islet cell hyperplasia

Head And Neck Eyes:
strabismus, alternating (in some patients)

Laboratory Abnormalities:
intermittent severe hypoglycemia (in some patients)

Endocrine Features:
hyperinsulinemic hypoglycemia

Growth Weight:
high birth weight (in some patients)

Metabolic Features:
hypoglycemia, leucine-induced
hypoglycemia, oral protein-induced

Clinical features from OMIM®:

240800 (Updated 05-Mar-2021)

UMLS symptoms related to Hypoglycemia, Leucine-Induced:


muscle spasticity

Drugs & Therapeutics for Hypoglycemia, Leucine-Induced

Search Clinical Trials , NIH Clinical Center for Hypoglycemia, Leucine-Induced

Genetic Tests for Hypoglycemia, Leucine-Induced

Genetic tests related to Hypoglycemia, Leucine-Induced:

# Genetic test Affiliating Genes
1 Leucine-Induced Hypoglycemia 29 ABCC8

Anatomical Context for Hypoglycemia, Leucine-Induced

MalaCards organs/tissues related to Hypoglycemia, Leucine-Induced:

40
Pancreatic Islet

Publications for Hypoglycemia, Leucine-Induced

Articles related to Hypoglycemia, Leucine-Induced:

(show all 16)
# Title Authors PMID Year
1
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. 57 6
15356046 2004
2
Leucine-induced hypoglycemia. I. Clinical observations and diagnostic considerations. 57 61
13764666 1960
3
Familial hypoglycemia precipitated by amino acids. 57
13306783 1956
4
Leucine-induced hypoglycemia in a family: effect of diphenylhydantoin, oxprenolol, and diazoxide. 61
6510895 1984
5
The influence of branched chain aminoacids and their ketoderivatives on renal gluconeogenesis. 61
11967 1976
6
Leucine-induced hypoglycemia. 61
5533016 1970
7
Leucine-induced hypoglycemia. 61
6024228 1967
8
LEUCINE-INDUCED HYPOGLYCEMIA. 61
14284995 1965
9
EXPERIMENTAL LEUCINE-INDUCED HYPOGLYCEMIA IN MICE. 61
14289490 1965
10
FUNCTIONING PANCREATIC ISLET CELL ADENOMA. WITH LEUCINE-INDUCED HYPOGLYCEMIA. 61
14051377 1963
11
STUDIES ON THE MECHANISM OF LEUCINE-INDUCED HYPOGLYCEMIA. 61
14065457 1963
12
LEUCINE-INDUCED HYPOGLYCEMIA. III. THE BLOOD GLUCOSE DEPRESSANT ACTION OF LEUCINE IN NORMAL INDIVIDUALS. 61
14043072 1963
13
Leucine-induced hypoglycemia. 61
13951710 1962
14
The use of insulin in the production of L-leucine-induced hypoglycemia in normal dogs. 61
14490816 1962
15
Effect of sodium glutamate on leucine-induced hypoglycemia: clinical and electroencephalographic study. 61
13900074 1961
16
Leucine-induced hypoglycemia. II. Studies concerning other amino acids and leucine metabolites. 61
13764667 1960

Variations for Hypoglycemia, Leucine-Induced

ClinVar genetic disease variations for Hypoglycemia, Leucine-Induced:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC8 NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His) SNV Pathogenic 9098 rs28936370 11:17418527-17418527 11:17396980-17396980
2 ABCC8 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) SNV Pathogenic 188915 rs72559722 11:17434263-17434263 11:17412716-17412716
3 ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) SNV Pathogenic 495834 rs72559734 11:17496502-17496502 11:17474955-17474955
4 ABCC8 NM_000352.5(ABCC8):c.290+2T>C SNV Likely pathogenic 552247 rs1554948310 11:17496431-17496431 11:17474884-17474884
5 ABCC8 NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) SNV Likely pathogenic 434045 rs72559715 11:17415926-17415926 11:17394379-17394379
6 ABCC8 NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) SNV Likely pathogenic 35617 rs193922402 11:17417158-17417158 11:17395611-17395611
7 ABCC8 NM_000352.6(ABCC8):c.3454G>A (p.Ala1152Thr) SNV Likely pathogenic 975948 11:17426162-17426162 11:17404615-17404615
8 ABCC8 NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) SNV Uncertain significance 434050 rs138687850 11:17448642-17448642 11:17427095-17427095
9 ABCC8 NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) SNV Uncertain significance 210067 rs67254669 11:17470143-17470143 11:17448596-17448596
10 ABCC8 NM_001287174.2(ABCC8):c.413-5G>A SNV Uncertain significance 35613 rs186946111 11:17485156-17485156 11:17463609-17463609

UniProtKB/Swiss-Prot genetic disease variations for Hypoglycemia, Leucine-Induced:

73
# Symbol AA change Variation ID SNP ID
1 ABCC8 p.Arg1352His VAR_029784 rs28936370

Expression for Hypoglycemia, Leucine-Induced

Search GEO for disease gene expression data for Hypoglycemia, Leucine-Induced.

Pathways for Hypoglycemia, Leucine-Induced

GO Terms for Hypoglycemia, Leucine-Induced

Sources for Hypoglycemia, Leucine-Induced

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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