Paula and Bobby
Parents of Lillie
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetesmellitus
What is Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetesmellitus?
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetesmellitus is a rare disease. It is also known as Stimmler Syndrome.
Two sisters were described with low birth-weight dwarfism, microcephaly, mental retardation, enamel hypoplasia and diabetes mellitus. Excessive amounts of alanine were excreted in the urine. Both sisters were said to have an ataxic gait and limb movements. Blood pyruvate and lactate levels were also increased, raising the possiblity of a relationship to Leigh's disease.
* This information is courtesy of the L M D.
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What gene changes cause Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetesmellitus?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 202900 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetesmellitus?
The typical symptoms of the syndrome are:
Aminoaciduria, Microdontia, Intrauterine growth retardation, Lactic acidosis, Abnormality of dental enamel, Diabetes mellitus, Severe short stature, Short stature, Incoordination, Cognitive impairment, Hypoplasia of dental enamel, Type II diabetes mellitus, Microcephaly, Autosomal recessive inheritance
How does someone get tested for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetesmellitus?
The initial testing for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetesmellitus can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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