Visit Metagene.de!
Summary
3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE DEFICIENCY
3-HYDROXY-3-METHYLGLUTARIC ACIDURIA, HMG-CoA SYNTHASE DEFICIENCY MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
605911
OMIM = Online Medalian Inheritance of Men
35701
1p12
  • avoidance of fasting
very rare (<1:1000000)
Hereditary deficiency of mitochondrial HMG-CoA synthase .. is a poorly defined, treatable, probably underdiagnosed condition that can cause episodes of severe hypoketotic hypoglycemia [Bouchard et al. 2001]
symptoms
coma
hepatomegaly (large liver)
hypoglycemia
onset, adult
laboratory finding
Literature
Rodriguez LMet al.Effect of a low sodium diet on urinary elimination of cystine in cystinuric childrenNephron714416-4181995
Lindell Aet al.The effect of sodium intake on cystinuria with and without tiopronin treatmentNephron714407-4151995
Prasad Cet al.The importance of gut motility in the metabolic control of propionic acidemiaJ Pediatr1444562-5352004
Bassen FAKornzweig ALMalformation of the erythrocytes in a case of atypical retinitis pigmentosaBlood50381-3871950
Cavestro GMet al.Progressive familial intrahepatic cholestasisActa Biomed Ateneo Parmense73053-562002
Lupi Aet al.Therapeutic apheresis exchange in two patients with prolidase deficiencyBr J Dermatol14701237-12402002
Kranz Cet al.Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase IAm J Hum Genet743545-5512004
Perugini Pet al.Intracellular delivery of liposome-encapsulated prolidase in cultured fibroblasts from prolidase-deficient patientsJ Control Release1020181-1902005
Abbas MHussain Y, Al-Beloushi KByler disease associated with acute cholecystitisSurg Endosc1607162002
Cooper Aet al.Alpha- and beta-mannosidosesJ Inherit Metab Dis134538-5481990
Jaeken JCet al.G protein diseases: newly recognized causes of metabolic encephalopathyEur J Paediatr Neurol75211-2152003
Sakhaee KCystinuria: pathogenesis and treatmentMiner Electrolyte Metab206414-4231994
Hardie RMet al.The changing clinical pattern of Reyes syndrome 1982-1990Arch Dis Child745400-4051996