Stimmler syndrome explained

Synonyms:	Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
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]

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]

Notes and References

1. Web site: Stimmler syndrome. Orphanet. 2011-09-14.
2. Stimmler L, Jensen N, Toseland P . Alaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus in two sisters . Archives of Disease in Childhood . 45 . 243 . 682–5 . October 1970 . 5477682 . 1647488 . 10.1136/adc.45.243.682.
3. Web site: Stimmler syndrome: Introduction. Right Diagnosis. 2011-09-14.
4. Haworth JC, Ford JD, Younoszai MK . Familial chronic acidosis due to an error in lactate and pyruvate metabolism . Canadian Medical Association Journal . 97 . 13 . 773–9 . September 1967 . 6050895 . 1923319 .
5. Web site: Online Medical Inheritance in Man. ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS. 1995-11-12. 2011-09-14.