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Summary
SMITH-LEMLI-OPITZ SYNDROME (SLOS)
SLOS
270400
OMIM = Online Medalian Inheritance of Men
818
11q13.4
  • chenodeoxycholic acid
  • cholesterol
  • Simvastatin
  • ursodeoxycholic acid
rare (1:20.000 - 1:40.000)
autosomal recessive
type I : milder form
type II: more severe form
symptoms
anteverted nostril
behavior, self-mutilating or destructive
broad forehead (wide)
broad nasal bridge
cardiac involvement, cardiac defects
cataract
cholestasis
congenital heart defect
constipation
cryptorchism
developmental delay
dysmorphism
failure to thrive
feeding difficulties, poor feeding
genitalia, ambigous
hearing defect, deafness
hemangioma
hydrocephalus
hydronephrosis
hypospadia
hypotonia
irritability
limb abnormalities, limb deformities
liver involvement or dysfunction
low set ears
lung hypoplasia
mental retardation
microcephaly (<2 SD for age)
myelination, incomplete
photophobia or photosensitive defect in light-exposed area
polydactyly
ptosis (drooping eyelid)
pyloric stenosis
renal cysts
sacral dimple
seizures
short neck
short nose
short stature
skin rash, eczematous or seborrhoic
small chin or micrognathia
strabismus
syndactyly
urinary tract defects
ventricular septal defect
vomiting
laboratory finding
Cholesterol0.262.103.608.00mmol/lplasma
7-Dehydrocholesterol6.0028.00 mg/dlplasma
8-Dehydrocholesterol7.0019.00 mg/dlplasma
7-Dehydrocholesterol reductase37.0045.00380.00500.00pmol/mg protein/minliver microsomes
3-Methylglutaconic acid 0.009.00normal/increasedurine
Transaminases increasedserum
Literature
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Wilcken Bet al.Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiencyLancet3418842404-4081993
Fenton WARosenberg LEInherited disorders of cobalamin transport and metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203129-32491995
Smith IDisorders of tetrahydrobiopterin metabolismin Fernandes J, Saudubray J-M, Tada K (eds): Inborm metabolism diseases. Diagnosis and treatment. Berlin, Springer Verlag00183-1991
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
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
Burgard Pet al.Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997Eur J Pediatr158046-541999
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Blanco I,et al.Neutrophilic Panniculitis Associated with Alpha-1 Antitrypsin Deficiency: an UpdateBr J Dermatol002015
Stoller JK,et al.Characteristics of Alpha-1 Antitrypsin-Deficient Individuals in the Long-term Oxygen Treatment Trial and Comparison with Other Subjects with Chronic Obstructive Pulmonary Disease.Ann Am Thorac Soc1221796-18042015
Chen Y-TBurchell AGlycogen storage 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.10935-9651995
Treem WRet al.Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydrocxyacyl-coenzyme A dehydrogenase deficiencyAm J Gastroenterol9102293-23001996
Sims HFet al.The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with meternal acute fatty liver of pregnancyProc Natl Acad Sci USA920841-8451995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Stoeckler Set al.Creatine deficiency in the brain: a new, treatable inborn error of metabolismPediatr Res360409-4131994
Tyni Tet al.Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathyOphthalmology1050810-8241998