5 terms

MCB II Block II Diseases

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Fanconi-Bickel syndrome
AR inherited mutation in SLC2A2 leads to lack of GLUT2 which causes glucose not being able to exit the liver or kidneys and pancreas glucose sensing impairment presenting as hepatosplenomegaly, proximal renal tubular dysfunction and transient neonatal diabetes respectively
GLUT1 deficiency syndrome
AR inherited mutation in SLC2A1 leads to loss of function of GLUT1 which causes glucose not being transported across a number of blood barriers presenting as epileptic encelopathy, delayed development, acquired microcephaly, motor incoordination, spasticity
MODY2 (maturity onset diabetes of the young)
AD inherited mutation leads to decreased affinity of glucokinase for glucose which causes higher than normal blood glucose levels, generally asymptomatic
GSD-VII
Mutataion in PFK1 leads to accumulation of glucose-6-P which inhibits glycogen phosphorylase which catalyzes the rate determining step in the breakdown of glycogen which causes glycogen accumulation in the liver
PDH deficiency
X-linked mutation in any PDC component (mainly PDHA1 > E1) leads to lactic acidosis which is lethal in neonatal period or causes progressive psychomotor retardation if mild