Metabolic Defects - Other Metabolic Disorder

Dr. Reeja Tharu
Medically Reviewed by The Medindia Medical Review Team  on Nov 17, 2016
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Metabolic Defects - Other Metabolic Disorder

Hormonal disorderGoiterous cretinism(One of the many different types of hypothyroidism) Iodotyrosine dehalogenase Dwarfism, mental retardation, goiter, coarse skin and facial features.  
Blood coagulation disorderHaemophilia A Factor VIII Spontaneous bleeding, especially into large joints and muscles, hematoma, chronic arthritis, can be fatal if left untreated. Supplementation with Factor VIII
Connective tissue disorder Osteogenesis imperfecta, type I Procollagen type I Osteoporosis, bone fractures, blue sclera (outer layer of eyeball), hearing loss. No satisfactory treatment available
Connective tissue disorder Marfan Syndrome Fibrillin Long, thin fingers and limbs, chest deformity, loose joints, curved spine, displaced lens, cardiovascular problems, including tendency to aortic rupture. Surgical therapy for correction for cardiac defects

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