SNP Shot: Genomic Insights

Aspartylglucosaminuria (AGU) is a progressive disorder that mainly impacts cognitive abilities and motor skills. While babies with AGU seem normal at birth and generally develop as expected in early childhood, problems typically begin around ages 2 to 3. These problems include speech delays, mild intellectual disabilities, and difficulty with coordination.

As AGU progresses during childhood, other symptoms can emerge, such as frequent respiratory infections, hernias, and an accelerated growth phase leading to an unusually large head (macrocephaly).

During adolescence, intellectual and motor impairments become more pronounced. Individuals with AGU often lose much of their acquired speech, and adult vocabulary is usually limited. Psychological issues and seizures are also common in adults affected by AGU.

Additional features of AGU can include weakening bones susceptible to fractures (osteoporosis), excessively flexible joints (hypermobility), and loose skin. People with AGU often share distinctive facial characteristics, such as wide-set eyes (ocular hypertelorism), small ears, and full lips. The nose tends to be short and broad, and the face often has a square shape. Poor oral health, including infections and gum disease (gingivitis), is also common. Affected children may initially be taller than their peers, but adults are usually short with a small head (microcephaly) due to a lack of a pubertal growth spurt. Individuals with AGU generally live to middle age.

Inheritance:

AGU follows an autosomal recessive inheritance pattern. This means that a person must inherit a mutated copy of the responsible gene from both parents to develop the condition. Each parent carries one copy of the mutated gene but usually shows no symptoms themselves.