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Leucine-induced hypoglycemia(LIH)

MedGen UID:
82888
Concept ID:
C0271714
Disease or Syndrome
Synonyms: Familial infantile hypoglycemia precipitated by leucine; Leucine-sensitive hypoglycemia of infancy; LIH
SNOMED CT: Leucine-induced hypoglycemia (62151007)
 
Gene (location): ABCC8 (11p15.1)
 
Monarch Initiative: MONDO:0009415
OMIM®: 240800

Definition

Leucine-sensitive hypoglycemia (LIH) is a condition in which symptomatic hypoglycemia is provoked by protein meals or the amino acid leucine (summary by Magge et al., 2004). [from OMIM]

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Coma
MedGen UID:
1054
Concept ID:
C0009421
Disease or Syndrome
The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.
Drowsiness
MedGen UID:
4390
Concept ID:
C0013144
Finding
Abnormal feeling of sleepiness or difficulty staying awake.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Irritability
MedGen UID:
397841
Concept ID:
C2700617
Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Hyperinsulinemic hypoglycemia
MedGen UID:
351247
Concept ID:
C1864903
Disease or Syndrome
An increased concentration of insulin combined with a decreased concentration of glucose in the blood.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Recent clinical studies

Diagnosis

Snyder R, Robinson A
Am J Dis Child 1967 May;113(5):566-70. doi: 10.1001/archpedi.1967.02090200098009. PMID: 6024228
FAJANS SS
N Engl J Med 1965 Jun 10;272:1224-7. doi: 10.1056/NEJM196506102722308. PMID: 14284995
MABRY CC, DIGEORGE AM, AUERBACH VH
J Pediatr 1960 Oct;57:526-38. doi: 10.1016/s0022-3476(60)80080-7. PMID: 13764666

Therapy

Hochberg Z, Spindel A, Guttman H, Colin AA
Horm Res 1984;20(4):218-23. doi: 10.1159/000180000. PMID: 6510895
Snyder R, Robinson A
Am J Dis Child 1967 May;113(5):566-70. doi: 10.1001/archpedi.1967.02090200098009. PMID: 6024228

Clinical prediction guides

MABRY CC, DIGEORGE AM, AUERBACH VH
J Pediatr 1960 Oct;57:526-38. doi: 10.1016/s0022-3476(60)80080-7. PMID: 13764666

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