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Summary
GLYCEROL KINASE DEFICIENCY
GKD HYPERGLYCEROLEMIA, GLYCEROLURIA GLYCEROL KINASE DEFICIENCY
307030
OMIM = Online Medalian Inheritance of Men
408
Xp21.2
  • corticosteroids
  • glucose infusion (acute)
  • mineralocorticoid
rare (>50 cases)
X-linked recessive
mutation in the GK gene
3 types:
1) complex glycerol kinase deficiency, Xp21 contiguous gene syndrome
2) juvenile form
3) benign or (asymptomatic) adult form
ÔÇÿpseudohypertriglyceridaemiaÔÇÖ is frequently misdiagnosed as hypertriglyceridaemia in Isolated glycerol kinase deficiency (GKD),
symptoms
adrenal insufficiency
cholestasis
cryptorchism
defect of adrenal gland or function
dysmorphism
failure to thrive
fever
growth retardation, poor growth
hyperpigmentation
hypoglycemia
hypothermia
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
muscle weakness
myopathy
no consistent clinical signs or symptoms
obstructive airway disease
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
Organic acids, urine
osteoporosis
strabismus
vomiting
laboratory finding
Glycerol90.00190.000.0040.00mol/mol creatinineurine
Glycerol1.808.300.020.27mmol/lserum
D-Glucose0.503.002.805.00mmol/lserum
pH7.107.357.357.45no unitblood
Pseudohypertriglyceridemia serum
EEG abnormalities -
Creatine kinase100.0010000.0040.00400.00normal/increasedserum
Triglycerides100.00800.00 mg/dlserum
Literature
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Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
New Author000
Kollee Let al.Persistent neonatal hypoglycaemia due to glucagon deficiencyArch Dis Child530422-4241978
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Annunziata I,dAzzo AGalactosialidosis: historic aspects and overview of investigated and emerging treatment optionsExpert Opin Orphan Drugs52131-1412017
Sakai C1,Yamaguchi S, Sasaki M, Miyamoto Y, Matsushima Y, Goto YECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndromeHum Mutat362232-2392015
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sasaki Met al.A severely brain-damaged case of 3-hydroxyisobutyric aciduriaBrain Dev234243-2452001