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Tetrahydrobiopterin Deficiency

Tetrahydrobiopterin Deficiency Overview Tetrahydrobiopterin (BH4) deficiencies is a general term for a group of disorders characterized by abnormalities in the creation (biosynthesis) or regeneration of tetrahydrobiopterin, a naturally occurring compound that acts as a cofactor. A cofactor is a non-protein substance in the body that enhances or is necessary for the proper function of certain enzymes. When tetrahydrobiopterin is deficient, the chemical balance within the body is upset. In most of these disorders, there are abnormally high levels of the amino acid phenylalanine (hyperphenylalaninemia). Amino acids such as phenylalanine are chemical building blocks of proteins and are essential for proper growth and development. Most of these disorders also cause abnormally low levels of neurotransmitters. Neurotransmitters are chemicals that modify, amplify or transmit nerve impulses from one nerve cell to another, enabling nerve cells to communicate. These chemical imbalances can ultima...
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Sitosterolemia

Sitosterolemia Overview Sitosterolemia is a rare genetic condition that causes the body to store plant sterols. There are at least two types of sterols: sterols from animals (example, cholesterol) and sterols from plants –also called phytosterols (example, sitosterol). Most people normally absorb plant sterols from the food they eat and excrete them in the gut. People with sitosterolemia absorb plant sterols but cannot excrete them, resulting in the accumulation of plant sterols in the body, especially in the blood and the arteries. Sitosterolemia is an autosomal recessive genetic condition caused by changes (mutations) in the ABCG5 or ABCG8 gene. Standard lipid profiles do not check for plant sterol in the blood, so sitosterolemia is frequently missed unless a special blood test is ordered. Variability in presenting signs and symptoms and low awareness of this condition contribute to missed or delayed diagnosis. If left untreated, sitosterolemia can lead to premature hardening of the ...
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Beta-ureidopropionase deficiency

Beta-ureidopropionase deficiency Overview Beta-ureidopropionase deficiency is a very rare inherited metabolic disorder that affects how the body breaks down pyrimidines (the building blocks of DNA and RNA). Symptoms • Neurological & Developmental: • Hypotonia: Low muscle tone or "floppy" muscle strength. • Seizures / Epilepsy : Recurrent or unprovoked convulsive episodes. • Developmental Delay : Lying, sitting, walking, or reaching milestones later than expected. • Intellectual Disability: Ranging from mild to more pronounced cognitive impairment. • Speech Difficulties: Delayed language acquisition or articulation issues. • Autistic Behaviors: Challenges affecting social interaction and communication. • Physical & Structural: • Microcephaly : An abnormally small head size in some individuals. • Brain Abnormalities: Structural variations visible on medical imaging (such as an MRI). • Optic Nerve Deterioration: Atrophy leading to potential vision loss. • Asymptomati...
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Nijmegen breakage syndrome (NBS)

Nijmegen breakage syndrome (NBS) Overview Nijmegen breakage syndrome (NBS) is a rare autosomal recessive genetic disorder caused by mutations in the NBN gene (located on chromosome 8q21), which encodes a protein called nibrin. This defect impairs the body's ability to repair double-strand breaks in DNA, leading to chromosomal instability, heightened sensitivity to radiation, and cell damage Symptoms • Microcephaly : A small head circumference that is usually present at birth or becomes noticeable within the first few months and progressively slows down relative to body growth. • Distinctive Facial Features: A sloping forehead, prominent midface/nose, receding lower jaw (mandible), large ears, and sparse hair. • Growth and Developmental Delays: Mild growth restriction leading to short stature, alongside normal early intellectual development followed by mild-to-moderate intellectual disability or learning delays. • Recurrent Infections: Frequent and severe respiratory tract infecti...
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Congenital Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Overview Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is a rare genetic disorder characterized by the near total loss of body fat (adipose tissue) and extreme muscularity that is often present at birth or soon thereafter. CGL is associated with metabolic complications related to insulin resistance such as an inability to break down (metabolize) glucose intolerance (high blood glucose levels after oral glucose administration), elevated levels of triglycerides (fat) in the blood (hypertriglyceridemia) and diabetes. Diabetes associated with CGL is often very difficult to treat. Additional complications such as those affecting the liver and heart can also occur. The symptoms and severity of CGL can vary greatly from one person to another. There are four different subtypes of CGL each caused by changes (variants) in different genes. All the known types of CGL are inherited in an autosomal recessive pattern. Lipody...
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Myelomeningocele

Myelomeningocele Overview What is myelomeningocele? Myelomeningocele (also known as open spina bifida) is a congenital condition (birth defect) in which your child’s backbone (spine) and spinal canal don’t close before birth. It’s a type of neural tube defect (NTD). Myelomeningocele is pronounced MY-eh-lo-men-IN-go-seal. Myelomeningocele develops in a fetus during the first four weeks of pregnancy. Myelomeningocele is characterized by incomplete neural tube closure and a fluid-filled sac that protrudes from your baby’s back. The sac contains: Part of their spinal cord. Meninges (tissues covering their spinal cord). Nerves. Cerebrospinal fluid (CSF). Myelomeningocele can happen anywhere along your baby’s spinal cord. It most commonly occurs in their low back (lumbar and sacral areas). The part of the spinal cord and the nerves in the sac are damaged, which usually results in weakness and/or loss of sensation to the part of the body below where the sac is located. In some cases, the sac ...
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Benign recurrent intrahepatic cholestasis

 Benign recurrent intrahepatic cholestasis  Overview  Benign recurrent intrahepatic cholestasis (BRIC) is a rare, inherited liver disorder characterized by repeated, temporary episodes of cholestasis—a condition where the flow of bile from the liver is reduced or blocked. Despite severe symptoms during an attack, the disease is "benign" because it does not cause permanent, progressive liver damage or cirrhosis. Symptoms An episode typically starts in adolescence or young adulthood (teens or twenties) and includes the following signs: • Severe Itchiness (Pruritus): This is usually the very first symptom to appear, often becoming intense and debilitating before other signs show up. • Jaundice: A few weeks after the itching starts, the skin and the whites of the eyes turn yellow. • Dark Urine and Pale Stools : Urine may become dark or tea-colored, while bowel movements can turn pale, clay-colored, or acholic due to a lack of bile entering the gut. • Digestive and GI Issues:...
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