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Summary
MENKES SYNDROME
KINKY HAIR DISEASE
309400
OMIM = Online Medalian Inheritance of Men
565
Xq21.1
  • copper histidinate
1:40000 (Melbourne) - 1:298000 (Europe)
X-linked recessive
defective intestinal absorption leads to copper deficiency and thus to defective copper enzymes mild Menkes disease has milder biochemical and clinical expression
symptoms
anemia
birthweight low (small for gestational age)
bladder divertikulae
cutis laxa
encephalopathy
facies, cherubic (dolls face)
feeding difficulties
gingiva, hyperplastic
hair loss
hair, abnormal (thin, brittle)
hernia
Homovanillic acid/vanillylmandelic acid (HVA/VMA) ratio
hypopigmentation
hypothermia
male
mental retardation
microcephaly
motor retardation
normal at birth
osteoporosis
pili torti
progressive neurologic defect
retinal or macular degeneration
seizures
short stature
skeletal changes
subdural haematoma
thromboembolism
laboratory finding
Copper10.0080.0090.00190.00-Ág/dlserum
Ceruloplasmin0.005.0030.0065.00mg/dlserum
Copper10.0020.0070.00140.00-Ág/g dry weightliver
EEG abnormalities -
Literature
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
Gennip AHAbeling NGGM, Stromer AEM, Overmars H, Bakker HDThe Detection of Molybdenum Cofactor Deficiency: Clinical Symptomatology and Urinary Matabolite ProfileJ Inherit Metab Dis170142-1451994
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
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sakura Net al.Elevated plasma bile acids in hypergalactosaemic neonates: a diagnostic clue to portosystemic shuntsEur J Pediatr1560716-7181997
Elpeleg ONet al.3-Methylglutaconic aciduria in the Iraqi-Jewish optic atrophy plus (Costeff) syndromeDev Med Child Neurol362167-1721994
Yamagucchi Set al.Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiencyPediatr Res340111-1131993
Mayatepek Eet al.Defects in the synthesis of cysteinyl leukotirens: a new group of inborn errors of metabolismJ Inherit Metab Dis230404-4082000
Wang Yet al.The lactase persistence/non-persistence polymorphism is controlled by a cis-acting elementHum Mol Genet40657-6621995
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
Lerman-Sagie TBehr syndrome letterPediatr Neurol121901995
Lazarow PBMoser HWDisorders of peroxisome biogenesisThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2712287-23241995