Inferior Anastomotic Vein Stasis
Inferior Anastomotic Vein Stasis is a condition that affects blood flow in veins, leading to various symptoms and complications. In this comprehensive guide, we’ll break down...
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Inferior Anastomotic Vein Stasis is a condition that affects blood flow in veins, leading to various symptoms and complications. In this comprehensive guide, we’ll break down...
Read articleA white blood cell count measures the number of leukocytes circulating in one microliter of blood. Under normal conditions, adults have roughly 4,000–11,000 cells/µL. When the count...
Read articleA white blood cell count measures the number of leukocytes—cells that help your body fight infections and other diseases—in each microliter (µL) of blood. The normal...
Read article2-methyl-3-hydroxybutyricacidemia is a rare inherited metabolic disease. Your body cannot properly break down the amino acid isoleucine and cannot use ketone bodies well. Ketone bodies are...
Read article3-methyl-3-hydroxybutyric acidemia (the condition most newborn-screening programs and medical references call 2-methyl-3-hydroxybutyric acidemia, or HSD10 disease / MHBD deficiency). It’s a very rare, inherited problem with...
Read article6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency is a rare, inherited metabolic disorder. It belongs to a small group of conditions called tetrahydrobiopterin (BH4) deficiencies. BH4 is a natural...
Read articleAbdominal Pain- Causes, Symptoms, Diagnosis is also known as stomach pain or tummy ache, is a common symptom associated with non-serious and serious causes. Common causes of pain in the abdomen...
Read articleAbdominal Pain- Symptoms, Diagnosis is also known as stomach pain or tummy ache, is a common symptom associated with non-serious and serious causes. Common causes of pain in the abdomen include...
Read articleAbsolute basopenia is a rare hematologic finding characterized by a near‐total absence of basophils—one of the five types of white blood cells that help orchestrate immune...
Read articleBasophils are a small type of white blood cell made in your bone marrow. They circulate in the blood and carry tiny packets of chemicals such...
Read articleAbsolute eosinopenia is a hematological finding characterized by a virtual absence of eosinophils in the peripheral blood. Clinically, it is often defined as an absolute eosinophil...
Read articleAbsolute lymphocytosis occurs when the number of lymphocytes in the blood rises above normal. Lymphocytes are a type of white blood cell that help your body...
Read articleACER3 deficiency is a very rare, inherited brain white-matter disease. It starts in infancy and slowly gets worse over time. Children first stop gaining new skills...
Read articleACER3-related leukodystrophy is a very rare brain white-matter disease that starts in early childhood. It happens because of harmful changes (variants) in a gene called ACER3....
Read articleAlkaline Ceramidase-3 (ACER3) Deficiency is a very rare, inherited white-matter brain disease (a leukodystrophy) that starts in infancy. A change (mutation) in the ACER3 gene harms...
Read articleMannosyltransferase 7–9 deficiency refers to inherited errors in the early steps of building the N-glycan “starter” on a lipid carrier. Think of a conveyor belt that...
Read articleCarbohydrate-Deficient Glycoprotein Syndrome Type 1L (CDG-IL / ALG9-CDG) is a rare, inherited disease. It happens when the ALG9 gene does not work well. This gene makes...
Read articleCongenital disorder of glycosylation type 1h (CDG-Ih, also called ALG8-CDG) is a rare, inherited condition that affects the way the body adds sugar chains to proteins. This...
Read articleCarbohydrate-deficient glycoprotein syndrome type Ih (CDG-Ih)—also called ALG8-CDG—is a very rare, inherited disease that affects how the body builds sugar chains (glycans) on proteins. These sugar...
Read articleALG8-Congenital Disorder of Glycosylation (ALG8-CDG) is a rare, inherited disease. It happens when a child gets two faulty copies of the ALG8 gene—one from each parent....
Read articleCongenital disorder of glycosylation caused by mutation in ALG6 is a rare inherited disease. It happens when both copies of a gene called ALG6 do not...
Read articleCarbohydrate-deficient glycoprotein syndrome type Ic (ALG6-CDG) is a rare, inherited disease. It happens when a gene called ALG6 does not work properly. This gene normally helps...
Read articleALG6–Congenital Disorder of Glycosylation (ALG6-CDG, CDG-Ic) is a rare, inherited condition. It happens when both copies of a gene called ALG6 do not work properly. The...
Read articleCarbohydrate-deficient glycoprotein syndrome type Id is a rare inherited disease. It affects the way the body adds sugar chains to proteins. This sugar-adding process is called...
Read articleCarbohydrate-deficient glycoprotein syndrome type II is a group of rare, inherited conditions where the body has trouble finishing the “sugar decorations” that are added to many...
Read articleALG2-congenital disorder of glycosylation (ALG2-CDG) is a very rare, inherited condition that affects how the body builds sugar “labels” on proteins (this process is called N-linked...
Read articleMannosyltransferase 8 deficiency—the condition more precisely known as ALG12-congenital disorder of glycosylation (ALG12-CDG, formerly CDG-Ig). Inside our cells is a factory called the endoplasmic reticulum (ER)....
Read articleCongenital disorder of glycosylation type 1g is a very rare, inherited disease that affects how the body adds sugar chains to proteins. This sugar-adding process is...
Read articleALG12-CDG (CDG-Ig) is a rare, inherited disease that affects how the body adds sugar chains to proteins. This sugar-adding process is called glycosylation. In ALG12-CDG, a...
Read articleCarbohydrate-deficient glycoprotein syndrome type Ip is a very rare, inherited metabolic disease. It affects how the body attaches sugar chains to proteins—a process called N-linked glycosylation....
Read articleMannosyltransferase 1 deficiency is a rare, inherited metabolic disease. It affects the way the body builds sugar chains on proteins. These sugar chains are called N-linked...
Read articleCongenital disorders of glycosylation (CDG) are rare, inherited conditions where the body has trouble attaching sugar chains (“glycans”) to proteins and sometimes to fats. This “sugar-adding”...
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