Metabolic Diseases

Metabolic diseases are inherited conditions that affect how the body processes proteins, iron, amino acids, or copper. These imbalances can lead to liver dysfunction, scarring, or even cancer if untreated. Alpha-1 Antitrypsin (A1AT) Deficiency What It Is: An inherited disorder where the liver produces abnormal A1AT protein instead of the protective form. Impact: The protein builds up in liver cells, causing liver disease in children and adults. It can also damage the lungs, leading to wheezing, cough, and shortness of breath. Diagnosis & Treatment: Confirmed by low serum A1AT levels. Treatment manages symptoms with medications and lifestyle changes. Hereditary Hemochromatosis What It Is: A genetic condition that causes the body to absorb too much iron from food. Impact: Excess iron builds up in organs, especially the liver, leading to cirrhosis and higher risk of liver cancer. Symptoms: Joint pain, fatigue, and abdominal discomfort. Diagnosis & Treatment: Genetic testing confirms the disorder. Treatment involves regular blood removal (phlebotomy) to reduce iron levels. Tyrosinemia What It Is: A genetic disorder where the body cannot break down the amino acid tyrosine. Impact: Toxic levels of tyrosine build up in the liver, causing liver failure or liver cancer. Diagnosis & Treatment: Detected through newborn screening. Treatment includes a low-tyrosine and low-phenylalanine diet plus NTBC medication to protect the liver and kidneys. Wilson’s Disease What It Is: A rare inherited condition that prevents the body from regulating copper. Impact: Copper accumulates in the liver, brain, and eyes, leading to liver damage, neurological issues, and psychiatric symptoms. Diagnosis & Treatment: Diagnosis can be difficult, but early detection is crucial. Medications help control copper levels and prevent permanent damage. General Considerations Early Diagnosis: Detecting these disorders early is key to starting treatment before permanent damage occurs. Family Screening: Testing relatives is important since these conditions are inherited. Liver Transplantation: In advanced cases, such as severe hemochromatosis or tyrosinemia, a liver transplant may be needed.