HYPOGLYCEMIA, LEUCINE-INDUCED

General Information (adopted from Orphanet):

Synonyms, Signs: LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY
LIH
Number of Symptoms 22
OrphanetNr:
OMIM Id: 240800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Autosomal dominant
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
 (HPO:0000486) Strabismus 576 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0002329) Drowsiness 19 / 7739
4
 (HPO:0002173) Hypoglycemic seizures 19 / 7739
5
 (HPO:0001347) Hyperreflexia 363 / 7739
6
 (HPO:0000737) Irritability 93 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (HPO:0001257) Spasticity 251 / 7739
9
 (HPO:0001259) Coma 65 / 7739
10
 (HPO:0000825) Hyperinsulinemic hypoglycemia 18 / 7739
11
 (HPO:0001943) Hypoglycemia 131 / 7739
12
 (OMIM) Hypoglycemia, leucine-induced 1 / 7739
13
 (OMIM) Strabismus, alternating (in some patients) 1 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 (OMIM) Transient ataxia 1 / 7739
16
 (OMIM) Islet cell hyperplasia 2 / 7739
17
 (OMIM) Hypotonicity 2 / 7739
18
 (OMIM) High birth weight 2 / 7739
19
 (OMIM) Intermittent severe hypoglycemia (in some patients) 1 / 7739
20
 (MedDRA:10041953) Staring 5 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (OMIM) Hypoglycemia, oral protein-induced 1 / 7739

Associated genes:

ABCC8;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cochrane et al. (1956) and DiGeorge and Auerbach (1960) reported familial infantile hypoglycemia precipitated by leucine. The family reported by Cochrane et al. (1956) included a father and 2 daughters who developed hypoglycemia after high protein feedings. Hypoglycemia was ...
Molecular genetics OMIM Magge et al. (2004) examined a nephew of the patient of Mabry et al. (1960) who presented with neonatal hyperinsulinism. At 10 months of age the proband had a positive leucine AIR (acute insulin response) test. The proband and ...