OMIM = Online Medalian Inheritance of Men
  • amino acid mixture
  • arginine-restricted diet
  • creatine monohydrate
  • L-ornithine hydrochlorate
  • sodium benzoate
autosomal recessive
behavior, self-mutilating or destructive
extrapyramidal signs
failure to thrive
infections (severe or recurrent)
learning disability
mental retardation
motor retardation
onset, infant
progressive neurologic defect
laboratory finding
Guanidinoacetate-methyltransferase1.701.9018.0023.80nmol/h/g wet weightliver
EEG abnormalities -
MRI, brain, abnormalities -
MRS, brain, abnormalities -
3-Methylglutaconic acid 0.009.00normal/increasedurine
Uric acid 0.605.50increasedserum
Creatinine 2.0027.0070.00-Ámol/lspinal fluid
Guanidinoacetate0.000.00 increasedurineno data
Guanidinoacetate increasedserum
Creatine0.000.00 decreasedurineno data
Creatine decreasedserum
Yap SClassical homocystinuria: vascular risk and its preventionJ Inherit Metab Dis260259-2652003
Bonnefont JPet al.Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosisJ Pediatr1212255-2581992
Morel CFet al.Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assayMol Genet Metab852115-1202005
Hoffmann GFet al.Hyper-2-oxoglutaric aciduria in long-term mental handicapJ Ment Defic Res300251-2601986
Roze Eet al.Dystonia and parkinsonism in GM1 type 3 gangliosidosisMov Disord002005
Goodman SIBrowder JAHydroxylysinuria in association with trisomy 21Lancet201141-11421970
Kohlsch+€tter Aet al.A familiar progressive neurodegenerative disease with 2-oxoglutaric aciduriaEur J Pediatr138032-371982
Steinberg SJFensom AH, Dalton NR, Toseland PA, Kennedy CR, Mowat APMeasurement of Plasma Very Long-Chain Fatty Acids as a Preliminary Screening Procedure for the Diagnosis of Peroxysomal DisordersJ Inher Metab Dis170323-3261994
Kawai Yet al.Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene Hum Genet1165340-3462005
Tang TTet al.GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spotsActa Derm Venereol736412-4151993
Poggi-Travert Fet al.Clinical approach to inherited peroxisomal disordersJ Inher Met Dis Suppl1801-181995
Snow TMMongolian spots in the newborn: do they mean anything?Neonatal Netw24131-332005
den Heijer MHyperhomocysteinaemia as a risk factor for venous thrombosis: an update of the current evidenceClin Chem Lab Med41111404-14072003
Levy HLet al.Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiencyJ Inherit Metab Dis254299-3142002
Castro Ret al.5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylationJ Med Genet416454-4582004
Kobayashi MHistidinuria due to a renal tubular defectRyoikibetsu Shokogun Shirizu192572-5731998
Baykal Tet al.Hyperhydroxyprolinaeia detected in newborn screening with tandem mass spectrometryJ Inherit Metab Dis276781-7822004
Miles EWKraus JPCystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutationsJ Biol Chem2792929871-42004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hoffmann GFDie Mevalonazidurie - eine Stoffwechselerkrankung der Cholesterin- und IsoprenoidbiosyntheseThieme Verlag Stuttgart New York001994
Kagalwalla AFKagalwalla YA, Al Ajaji S, Gorka W, Ali MAPhosphorylase b kinase deficiency glycogenosis with cirrhosis of liverJ Pediatr1270602-6051995
Schwahn BCet al.Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiencyBiochem J3820831-8402004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Chalmers RAet al.D-2-hydroxyglutaric aciduria: case report and biochemical studies J Inherit Metab Dis3011-151980
Rizzo Cet al.Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometryPediatr Res5361013-10182003