Health and Fitness

Adenine phosphoribosyl transferase (APRT) Overview Adenine phosphoribosyl transferase (APRT) deficiency is a rare, inherited metabolic disorder where the body cannot properly process adenine. This leads to the build-up of insoluble 2,8-dihydroxyadenine (2,8-DHA) crystals, which form kidney stones and can cause severe, progressive kidney damage. Symptoms Symptoms vary widely, and roughly half of all affected individuals remain completely asymptomatic until adulthood. When symptoms do occur, they typically involve the genitourinary system: Reddish-Brown Diaper Stains: Often the very first sign in infants, caused by the excretion of DHA crystals. Nephrolithiasis (Kidney Stones ): Recurrent stones that cause flank pain, abdominal cramps, nausea, and vomiting. Urinary Issues : Blood in the urine (hematuria), pain or difficulty during urination, and frequent urinary tract infections (UTIs). Kidney Damage: Crystalline nephropathy can cause sudden acute kidney injury (AKI) or progressive chr...

Pol III-related leukodystrophy Overview Pol III-related leukodystrophy is a rare genetic disorder caused by mutations in the POLR3A or POLR3B genes. Also known as 4H syndrome (Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism), it affects the central nervous system by impairing myelin production. Treatment focuses on managing progressive neurological, dental, and endocrine symptoms. Symptoms 1. Neurological Dysfunction Motor Control:   Difficulty coordinating movements (ataxia) leading to an unstable, wide-based gait. Over time, patients often develop involuntary rhythmic shaking (tremors) and muscle stiffness (spasticity). Speech & Swallowing: Impaired speech (dysarthria) and difficulty chewing or swallowing (dysphagia), which carries a risk of choking. Cognitive Profile: Mild to moderate intellectual disability, which may progress or involve developmental regression. 2. Abnormal Dentition (Tooth Development) Missing or Delayed Teeth: Delayed eruption of primary (b...

ADCY5-Related Dyskinesia Overview ADCY5-related dyskinesia is a rare neurological disorder characterized by various movement abnormalities. People with this condition have dyskinesia, a movement disorder characterized by trouble controlling voluntary movements, which are movements that a person does intentionally, such as lifting their arms, walking, or turning their heads. Instead, they experience uncontrolled, involuntary movements like sudden jerks, writhing motions, twitches, twisting, or tremors. These movements typically affect the arms, legs, neck and face. Symptoms can begin in babies, young children or teenagers and continue throughout life, though there can be periods without symptoms (remission). The severity varies greatly from one person to another, but intelligence and life span are generally unaffected. This condition is caused by a change (variant) in the ADCY5 gene. The disease-causing variant may be inherited from a parent, or it may occur spontaneously as a new varia...

Adams-Oliver Syndrome Overview Adams-Oliver syndrome (AOS) is a rare inherited condition present at birth that involves changes to the limbs and scalp. Symptoms may include areas of missing skin on the scalp, limb abnormalities, heart defects, neurological concerns and issues with the eyes. AOS is caused by changes (variants) in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ genes. Some people with AOS do not have a variant in one of these genes. AOS has different inheritance patterns based on the gene involved and can follow either an autosomal dominant or recessive inheritance pattern. There is no cure for AOS. However, it can be managed by monitoring and treating the symptoms. This is typically done by several different healthcare providers such as pediatricians, cardiologists and plastic surgeons. Signs & Symptoms Symptoms can vary widely based on the gene change (variant) that causes the disease, which is known as phenotype-genotype correlation, meaning that the signs and sy...

Lipedema Overview What is lipedema? Lipedema is a long-term condition that causes abnormal fat buildup in the lower part of your body. Lipedema most often involves your butt, thighs and calves. Some people have it in their hips or upper arms. It doesn’t affect your hands or feet. People sometimes confuse lipedema with having overweight or lymphedema, but these are different conditions. However, lipedema can lead to lymphedema. Many people with lipedema have a body mass index (BMI) higher than 35. Dieting and exercising can cause you to lose weight in your upper body without changing the areas lipedema affects in your lower body. Types of lipedema You may have more than one type of lipedema at a time, depending on where you have symptoms. Types of lipedema include: Type I: Fat is between your belly button and your hips. Type II : Fat is between your pelvis and knees. Type III: Fat is between your pelvis and ankles. Type IV: Fat is between your shoulders and wrists. Type V: Fat is betw...

 Adenosine deaminase (ADA) Overview Adenosine deaminase (ADA) deficiency is a rare, autosomal recessive metabolic disorder that impairs lymphocyte development and causes severe combined immunodeficiency (SCID). Without the ADA enzyme, toxic metabolites (such as dATP) accumulate, destroying T, B, and NK cells. Untreated ADA-SCID is typically fatal in infancy. Symptoms The signs and symptoms of ADA deficiency generally fall into three categories :1. Severe Immune Deficiency (ADA-SCID)Around 80% of cases are severe and appear within the first 6 months of life. Without treatment, these are usually fatal within the first or second year. Recurrent Infections: Frequent, persistent, or unusual cases of pneumonia, chronic diarrhea, thrush (oral yeast), and skin rashes. Failure to Thrive: Severely slow growth in height and weight, often resulting in developmental delays. No Functional Immunity : A near-complete lack of T-cells, B-cells, and natural killer (NK) cells. 2. Skeletal & Non-...