Stimmler syndrome
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]
| Stimmler syndrome | |
|---|---|
| Other names | Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus |
 | |
| Stimmler syndrome is inherited in an autosomal recessive manner | |
Symptoms
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]
Pathophysiology
Stimmler syndrome is an autosomal recessive genetic disorder whose symptoms appear before birth or during infancy.[1] In a study of two sisters born within a year of each other, both with Stimmler syndrome, it was found that high levels of alanine, pyruvate, and lactate were present in both the blood and urine. It was believed that the alanine was derived from the pyruvate.[2]
Diagnosis
References
- "Stimmler syndrome". Orphanet. Retrieved 2011-09-14.
- Stimmler L, Jensen N, Toseland P (October 1970). "Alaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus in two sisters". Archives of Disease in Childhood. 45 (243): 682–5. doi:10.1136/adc.45.243.682. PMC 1647488. PMID 5477682.
- "Stimmler syndrome: Introduction". Right Diagnosis. Retrieved 2011-09-14.
- Haworth JC, Ford JD, Younoszai MK (September 1967). "Familial chronic acidosis due to an error in lactate and pyruvate metabolism". Canadian Medical Association Journal. 97 (13): 773–9. PMC 1923319. PMID 6050895.
- "ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS". Online Medical Inheritance in Man. 1995-11-12. Retrieved 2011-09-14.