Alaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus in two sisters.
D000409:Alanine / Q000097:blood / Q000652:urine*; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics*; D001724:Birth Weight; D002675:Child, Preschool; D003744:Dental Enamel Hypoplasia / Q000150:complications / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000209:etiology / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007773:Lactates / Q000097:blood; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D011773:Pyruvates / Q000097:blood
D007773:Lactates; D011773:Pyruvates; D000409:Alanine