What is MENKES SYNDROME (MNK)?

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

Gibt es eine deutsche Bezeichnung?

Menkes-Syndrom; Menkes-Stahlhaarkrankheit; Steely-hair-Syndrom;

MENKES SYNDROME (MNK)

Disease	MENKES SYNDROME (MNK)
Synonym	MENKES DISEASE; KINKY HAIR DISEASE
OMIM	309400 OMIM = Online Mendelian Inheritance of Men
Orphanet	565
Protein (UniProt)	Copper-transporting ATPase 1
ExPASy	3.6.3.4
Gene locus	Xq21.1
ICD	E83.0
Summary	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
Laboratory findings	Ceruloplasmin decreased (serum) Copper decreased (cerebrospinal fluid) Copper decreased (serum) Copper decreased (liver) Homovanillic acid/Vanillylmandelic acid (HVA/VMA) (cerebrospinal fluid)
Symptoms	hair, abnormal (thin, brittle, fine) kinky hair anemia ataxia bladder divertikulae cutis laxa encephalopathy feeding difficulties, poor feeding hernia hypertonia, spasticity hypothermia intellectual disability/intellectual developmental disorder neutropenia (decreased neutrophils) psychomotor retardation seizures arterial tortuosity bleeding tendencies, hemorrhages EEG abnormalities [-] facies, cherubic (dolls face) gingiva, hyperplastic hair loss hypopigmentation male mental retardation microcephaly (<2 SD for age) motor retardation MRI, brain, abnormalities [-] normal at birth onset, infancy onset, neonatal osteoporosis pili torti progressive neurologic defect retinal or macular degeneration sex: male > female short stature skeletal changes, skeletal abnormalities small for gestational age (SGA), intrauterine growth retardation (IUGR) subdural effusions subdural haematoma thromboembolism