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Summary
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
3-HYDROXY-3-METHYLGLUTARIC ACIDEMIA LEUCINE METABOLISM, DEFECT IN, HMG-CoA LYASE DEFICIENCY
246450
OMIM = Online Medalian Inheritance of Men
20
1p36.11

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • avoidance of fasting
  • high-carbohydrate diet
  • L-carnitine
  • leucine-restricted diet
  • low-fat diet
  • low-protein diet
rare (>40 cases)
autosomal recessive
relatively common in Arabic populations
symptoms
anemia
cardiomyopathy
cerebral atrophy
coma
dehydration
early death
hemiparesis/hemiparetic cerebral palsy
hepatomegaly (large liver)
hyperammonemia
hypoglycemia
hypotonia
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
leukoencephalopathy
macrocephaly (large calvaria, >2 SD for age)
metabolic acidosis
neutropenia (decreased neutrophils)
onset, adult
onset, infant
onset, newborn
Organic acids, urine
pancreatitis
seizures
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
pH7.007.407.357.45no unitblood
3-Hydroxy-3-methylglutaric acid200.0011000.006.0050.00mmol/mol creatinineurinechildhood 4-6y
3-Methylglutaconic acid140.0010000.000.009.00mmol/mol creatinineurine
3-Methylglutaric acid14.001000.000.007.00mmol/mol creatinineurine
3-Hydroxyisovaleric acid60.004000.000.0046.00mmol/mol creatinineurine
3-Methylcrotonylglycine2.00450.000.002.00mmol/mol creatinineurinechild
Ammonia60.002000.0025.0080.00-Ámol/lblood
Glucose0.201.002.805.00mmol/lserum
Lactate1.006.000.901.80mmol/lblood
Transaminases30.002000.0010.0030.00U/lserum
Adipic acid12.0050.001.007.00mmol/mol creatinineurine
Carnitine0.000.00 decreasedurineno data
3-Hydroxy-3-methylglutaryl-CoA lyase 100.00decreased activityfibroblasts
3-Hydroxy-3-methylglutaryl-CoA lyase 100.00decreased activityleucocytes
3-Hydroxy-3-methylglutaryl-CoA lyase 100.00decreased activityliver
3-Methylglutaconic acid increasedamnion fluid
Acylcarnitine0.000.00 increasedurineno data
Methylglutarylcarnitine (C6DC) increasedblood
MRI, brain, abnormalities -
3-Methylglutaconic acid0.000.00 increasedurineno data
Literature
Kim TWHall SRLiver transplantation for propionic acidaemia in a 14-month-old malePaediatr Anaesth136554-5562003
Nomoto Set al.CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18)Biochem Biophys Res Commun2342382-3851997
Soliman ATet al.Growth and endocrine fuction after near total pancreatectomy for hyperinsulinaemic hypoglycaemiaArch Dis Child740379-3851996
Forlino Aet al.Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblastsHum Genet1110314-3222002
Lucke Tet al.Propionic acidemia: unusual course with late onset and fatal outcomeMetabolism536809-8102004
Lindley KJet al.Ionoic control of +ƒ cell function in nesiodioblastosis. A possible thrapeutic role for calcium channel blockadeArch Dis Child740373-3781996
Broome CBet al.Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a siblingJ Pediatr1283373-3761996
Prasad Cet al.The importance of gut motility in the metabolic control of propionic acidemiaJ Pediatr1444562-5352004
Mayatepek ELehmann WDGest+Ârter Abbau von 12- und 15-Hydroxyeikosatetraens+ñure (HETE) bei Patienten mit peroxisomaler Stoffwechselerkrankung10. Jahrestagung der APS in Fulda8.-10.2.96001996
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
Baguette Cet al.Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiencyJ Pediatr Hematol Oncol24169-712002
Uchino Yet al.Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutationBr J Dermatol149123-292003
Roe CRCoates PMMitochondrial fatty acid oxidation disordersThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101501-15331995
Salen GShefer S, Berginer VMFamilial diseases with storage of sterols other than cholesterol: cerebrotendinous xanthomatosis and sitosterolemia with xanthomatosisin Stanburry JB, Wyngaarden JB, Fredrickson DS, Brown MS, Goldstein JL (eds):Metabolic Basis of inherited disease, 5/e McGraw-Hill Inc.007131989
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
Matern Det al.Primary treatment of propionic acidemia complicated by acute thiamine deficiencyJ Pediatr1295758-7601996
Gourrier Eet al.Beta mannosidosis: a new caseArch Pediatr42147-1511997
Nagase Tet al.Peroxisomal localization in the developing mouse cerebellum: implications for neuronal abnormalities related to deficiencies in peroxisomesBiochim Biophys Acta1671026-332004
Trent JTKirsner RSLeg ulcers secondary to prolidase deficiencyAdv Skin Wound Care179468-4722004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Rosendahl Wet al.Variability of corticosterone methyl oxidase (type II) deficiency. Presentation of three case reportsKlin Padiatr2053180-1841993
Hardie RMet al.The changing clinical pattern of Reyes syndrome 1982-1990Arch Dis Child745400-4051996