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 56 71
Leucine-Induced Hypoglycemia 73 29 6 39 17
Leucine-Sensitive Hypoglycemia of Infancy 56 52 73
Hypoglycemia of Infancy, Leucine-Sensitive 56 13
Lih 56 73
Familial Infantile Hypoglycemia Precipitated by Leucine 52
Hypoglycemia Leucine Induced 52
Hypoglycemia Leucine-Induced 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hypoglycemia, leucine-induced:
Inheritance autosomal dominant inheritance autosomal recessive 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 triiodothyronine receptor auxiliary protein and hypoglycemia, 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 seizures

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 triiodothyronine receptor auxiliary protein 10.3
2 hypoglycemia 10.2
3 acute insulin response 10.1
4 hyperinsulinism 10.1
5 insulinoma 10.0
6 adenoma 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 seizures 31 HP:0001250
3 spasticity 31 HP:0001257
4 hyperreflexia 31 HP:0001347
5 ataxia 31 HP:0001251
6 hypoglycemia 31 HP:0001943
7 irritability 31 HP:0000737
8 strabismus 31 HP:0000486
9 coma 31 HP:0001259
10 hyperinsulinemic hypoglycemia 31 HP:0000825
11 drowsiness 31 HP:0002329

Symptoms via clinical synopsis from OMIM:

56
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

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. 56 6
15356046 2004
2
Leucine-induced hypoglycemia. I. Clinical observations and diagnostic considerations. 61 56
13764666 1960
3
Familial hypoglycemia precipitated by amino acids. 56
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_001287174.2(ABCC8):c.4058G>A (p.Arg1353His)SNV Pathogenic 9098 rs28936370 11:17418527-17418527 11:17396980-17396980
2 ABCC8 NM_001287174.2(ABCC8):c.221G>A (p.Arg74Gln)SNV Pathogenic 495834 rs72559734 11:17496502-17496502 11:17474955-17474955
3 ABCC8 NM_001287174.2(ABCC8):c.4309C>T (p.Arg1437Ter)SNV Pathogenic/Likely pathogenic 35617 rs193922402 11:17417158-17417158 11:17395611-17395611
4 ABCC8 NM_001287174.2(ABCC8):c.4435G>A (p.Gly1479Arg)SNV Pathogenic/Likely pathogenic 434045 rs72559715 11:17415926-17415926 11:17394379-17394379
5 ABCC8 NM_001287174.2(ABCC8):c.2509C>T (p.Arg837Ter)SNV Pathogenic/Likely pathogenic 188915 rs72559722 11:17434263-17434263 11:17412716-17412716
6 ABCC8 NM_001287174.2(ABCC8):c.290+2T>CSNV Likely pathogenic 552247 rs1554948310 11:17496431-17496431 11:17474884-17474884
7 ABCC8 NM_001287174.2(ABCC8):c.413-5G>ASNV Conflicting interpretations of pathogenicity 35613 rs186946111 11:17485156-17485156 11:17463609-17463609
8 ABCC8 NM_001287174.2(ABCC8):c.1252T>C (p.Cys418Arg)SNV Uncertain significance 210067 rs67254669 11:17470143-17470143 11:17448596-17448596
9 ABCC8 NM_001287174.2(ABCC8):c.2176G>A (p.Ala726Thr)SNV Uncertain significance 434050 rs138687850 11:17448642-17448642 11:17427095-17427095

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

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72 UMLS via Orphanet
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