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Summary
HOMOCYSTINURIA, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
CBS DEFICIENCY
236200
OMIM = Online Medalian Inheritance of Men
394
21q22.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • aspirin, low dose (?)
  • baclofen
  • betaine
  • folic acid
  • methionine-restricted diet
  • vitamin B12 (hydroxycobalamin)
  • Vitamin B6 (pyridoxine)
rare - 1:1800 (Qatar) - 1:60000 (Ireland) - 1:146000 (Japan)
autosomal recessive
50% pyridoxine-responsive patients
symptoms
aortic valvular disease
arachnodyctyly
arthritis
ataxia
behavior, abnormal or bizarre, confusion
cataract
cerebral vascular disease
Coagulopathy/Coagulation factors
developmental delay
dislocated lens (ectopia lentis)
glaucoma
hypopigmentation
inguinal hernia
liver, fatty
mental retardation
myoclonus
myopia
optic atrophy
osteoporosis
pancreatitis
retinal or macular degeneration
seizures
skeletal changes, skeletal abnormalities
skin, brittle
strokelike episodes
tall stature
thromboembolism
X-ray, abnormalities
laboratory finding
Homocystine0.001.003.008.00mmol/24hurinenewborn
L-Methionine150.002000.0011.0030.00-Ámol/lplasma
Homocystine50.00200.00 5.00-Ámol/lplasma
Cysteinyl leukotrienes (LTB4)0.000.0016.00147.00normalurinenewborn
Homocysteine0.000.004.7010.30increasedurine
Homocysteine50.00200.004.807.40-Ámol/lplasma
Copper 90.00190.00increasedplasma
Ceruloplasmin 15.0050.00increasedplasma
Ornithine 36.0096.00increasedplasma
EEG abnormalities -
L-Methionine0.000.00 increasedurineno data
L-Methionine
L-Cystine0.000.00 decreasedplasmanewborn
S-Adenosylhomocysteine0.000.00 increasedplasma
S-Adenosylmethionine0.000.00 increasedplasma
Literature
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Molven Aet al.Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidationDiabetes531221-2272004
Britten FL,Primary amenorrhoea with hypertension: undiagnosed 17-+-ª-hydroxylase deficiency.Primary amenorrhoea with hypertension: undiagnosed 17-+-ª-hydroxylase deficiencyMed J Aust1998556-5582013
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
Fischer MH,Brown RRTryptophan and lysine metabolism in alpha-aminoadipic aciduriaAm J Med Genet5135-411980
Muhl Aet al.Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigationEur J Hum Genet94237-2432001
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Tort F,et al.Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexesHum Mol Genet2371907-19152014
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
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Eaton Set al.Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?Biochem Soc Trans3101137-11392003
Blum WFInsulin+ñhnliche Wachstumsfaktoren und ihre BindungsproteineEndokrinologische Funktionsdiagnostik im Kindes- und Jugendalter, Hrsg. M.B.Ranke J & J Verlag Mannheim00116-1331993
Kim do Ket al.The human T-type amino acid transporter-1: characterization, gene organization, and chromosomal locationGenomics79195-1032002