Stimmler syndrome
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| Stimmler syndrome | |
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| Other names | Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus |
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| Stimmler syndrome is inherited in an autosomal recessive manner | |
Stimmler syndrome is a rare autosomal recessive[1] congenital disorder first described by Stimmler et al. in 1970.[2] It is characterized by dwarfism, diabetes, a small head, and high levels of alanine in the urine.[3]
Symptoms for the disease include microcephaly, a low birth weight, dwarfism, small teeth, and diabetes. The symptoms of Stimmler syndrome are closely related to a disease studied by Haworth et al. in 1967[4] as well as Leigh subacute necrotizing encephalopathy with lactic acidosis[5]