Preface | Jarind's Letters | Sims'Letters | Genetic Lists | Prevention | Letters of Signs |
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Genetic
Lists of Abnormal Genes ( Lists of ![]() |
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M = In born error of metabolism |
Mucopolysaccharidoses
Dysostosis multiplex
Chronic rhinitis is early sign with thick tongue
m78 =
Mucopolysaccharidosis type II ( Hunter 's
syndrome)
X-linked recessive
m79 = Mucopolysaccharidosis type IIIA
( Sanfilippo type A )
autosomal recessive
m80 = Mucopolysaccharidosis type IIIB
( Sanfilippo type B )
autosomal recessive
m81 = Mucopolysaccharidosis type IVA
( Morquio's syndrome )
autosomal recessive
m82 = Mucopolysaccharidosis type IVB
(
Morquio-like's syndrome )
autosomal recessive
m83 = Mucopolysaccharidosis type VI
(
Maroteaux-Lamy's syndrome )
autosomal recessive
M84 = Mucopolysaccharidosis type VII
autosomal
dominant
( Marfan's syndrome
with accumulation of hyaluronic acid,
decreased serum mucoprotein,increased urinary
excretion of hydroxyproline. Arachnodactyly,hyper
mobility of joints,subluxation of ocular lenses,
cataract,coloboma,megalocornea,strabismus,
nystagmus,high-arched palate,pectus carinatum,
scoliosis and thoracic aneurysms )
m85 = Mucopolysaccharidosis type VIII
(
Murdock's syndrome )
autosomal recessive
m86 = Phenylketonuria(PKU)
autosomal recessive
M87 = Porphyria cutanea tarda hereditaria
autosomal dominant
m88 = Progressive myoclonus epilepsy
autosomal recessive
(Unverricht-Lundborg La Forra's disease)
m89 = Propionic acidemia
autosomal
recessive
m90 = Refsum's disease
autosomal
recessive
m91 = Saccharopinuria
m92 = Sphingomyelin lipidosis
(Niemann-Pick disease)
autosomal recessive
m93 = Sulfatide lipidosis
(Metachromatic leukodystrophy)
autosomal recessive
m94 = Tryptophanuria
m95 = Tyrosinosis
autosomal recessive
m96 = Wolman's disease
( Acid lipase defect )
autosomal recessive
m97 = Xanthinuria
autosomal recessive
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Dr.Jarind B. Sriraumpuch |
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Update since 10/09/50