Galactosemia is a rare inherited metabolic disorder that affects the body’s ability to process galactose, a sugar found primarily in milk and dairy products. The signs of galactosemia usually appear shortly after birth, especially when an infant begins to consume…
Homocystinuria is caused primarily by genetic mutations that disrupt the normal metabolism of the amino acid methionine, leading to an accumulation of homocysteine and related compounds in the body. The most common cause is a mutation in the gene that…
Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterized by the body’s inability to break down certain amino acids—specifically leucine, isoleucine, and valine. This leads to their accumulation in the blood and urine, causing a distinctive sweet…
Phenylketonuria, commonly known as PKU, is a genetic disorder caused by a problem in the body’s ability to process an amino acid called phenylalanine. Phenylalanine is a building block of proteins found in many foods, including meat, dairy, eggs, and…
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. This deletion affects multiple systems inDiGeorge syndrome, also called 22q11.2 deletion syndrome, is a complex genetic condition…
Patau syndrome is caused by the presence of an extra copy of chromosome 13 in the cells of the body, a condition known as trisomy 13. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes, but…
Edwards syndrome, also known as Trisomy 18, is a serious genetic disorder caused by the presence of an extra copy of chromosome 18. It leads to severe developmental abnormalities affecting multiple organ systems. Because of the complexity and severity of…
Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21 in a person’s cells. Normally, humans have 46 chromosomes arranged in 23 pairs, but in Down syndrome, there is an additional full or…
Klinefelter syndrome is a genetic condition in males where there is an extra X chromosome, most commonly resulting in a 47,XXY karyotype. This extra chromosome affects physical, developmental, and sometimes cognitive aspects of a person’s life, but the symptoms can…
Turner syndrome is a genetic condition that happens when a female is missing all or part of one of her two X chromosomes. Normally, females have two X chromosomes (XX), but in Turner syndrome, one X chromosome is either completely…