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Disease	MENKES SYNDROME
Synonym	KINKY HAIR DISEASE
OMIM	309400 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	membrane-bound copper transporting P-type ATPase
Gene locus	Xq12-q13
genetests.org	search search on genetest.org by MIM 309400 search search on genetest.org by MENKES+SYNDROME Reviews - Read the GeneReview for this disorder Resources - View and print r
Summary	1:40000 (Melbourne) - 1:298000 (Europe) X-linked recessive defective intestinal absorption leads to copper deficiency and thus to defective copper enzymes; mild Menke's disease has milder biochemical and clinical expression
Clinical symptoms	birthweight low (small for gestational age) bladder divertikulae facies, cherubic (dolls face) gingiva, hyperplastic hair loss hair, abnormal (thin, brittle) hernia Homovanillic acid/vanillylmandelic acid (HVA/VMA) ratio hypothermia male mental retardation motor retardation normal at birth osteoporosis pili torti progressive neurologic defect retinal or macular degeneration seizures skeletal changes subdural haematoma thromboembolism
Abnormal Findings in liver	Copper Normal: 70.00-140.00 µg/g dry weight \| Significant : 10.00-20.00 µg/g dry weight
Abnormal Findings in serum	Ceruloplasmin Normal: 30.00-65.00 mg/dl \| Significant : 0.00-5.00 mg/dl Copper Normal: 90.00-190.00 µg/dl \| Significant : 10.00-80.00 µg/dl
Treatment	copper histidinate
Literature	There are 13 publications available. Click here to open the relevant MENKES SYNDROME publications