Panel 1: Hypoglycemia


In this panel all the genes described so far are grouped states associated with hypoglycemia.

Hypoglycemia is one of the most common disorders in childhood and a common manifestation to different entities. The major source of cerebral glucose (single power supply along with ketone bodies for this tissue) comes from the plasma; thus if insufficient plasma glucose can lead to neurological squealed. Early diagnosis is essential to treat hypoglycemia. Also rational treatment of hypoglycemia is based on knowledge of the specific disease that originates.

Includes:

Associated genes: hiperinsulinisms, glycogenosis, gluconeogenesis defects, monosaccharide metabolism, mitochondrial defects beta oxidation, ketogenesis and defects cytolysis.

NMG1: Hypoglycemia

NMG1_1: Endogenously produced hyperinsulinism

NMG1_2: Hepatic glycogenosis

NMG1_3: Gluconeogenesis

NMG1_4: Monosaccharides metabolism

NMG1_5: Defects fatty acid beta oxidation

NMG1_6: Ketogenesis, cetolisis

Panel 1: Hypoglycemia

Included genes:

ABCC8 PHKG2 GALE SLC22A5
HADHA OXCT1 KCNJ11 SLC2A2
GALK1 CPT1A ACADSB ACAT1
GCK PRKAG2 SLC5A1 CPT2
ACADS ACAT2 HADH PC
MCCC1 SLC25A20 ACADM INSR
PCK1 MLYCD ETFA ACADVL
GLUD1 PCK2 GCDH ETFB
HADHA SLC16A1 FBP1 MPI
ETFDH HADHB HNF4A ALDOB
DOLK HSD17B10 HMGCS2 UCP2
GALT PMM2 HADH HMGCL

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