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GM3 Synthase Deficiency

GM3 Synthase Deficiency Overview GM3 synthase deficiency is a rare genetic condition that can affect several different body systems. Many individuals with this condition have symptoms of severe infantile irritability with feeding difficulties, vomiting, seizures, low muscle tone, poor vision, hearing impairment, a small head, growth failure and frequent infections. Some people with this condition may have additional symptoms, such as uncontrolled and abnormal movements, abnormal lateral curvature of the spine (scoliosis) and gastrointestinal issues. Many individuals have severe-to-profound developmental delays and intellectual disability, with few individuals meeting early developmental milestones. The condition is rare, with more than 100 patients reported in medical literature. Many of these individuals come from Old Order Amish or La Réunion Island ancestry, but the condition has been reported in other populations as well. GM3 synthase deficiency is an autosomal recessive condition ...
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Amish lethal microcephaly

Amish lethal microcephaly Overview Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year. Amish lethal microcephaly is a rare, severe inherited metabolic and developmental disorder found almost exclusively in the Old Order Amish community in Pennsylvania, where it affects roughly 1 in 500 newborns. It causes extreme smallness of the head and an underdeveloped brain, leading to death usually within the first six months of life. Symptoms Physical and Neurological Symptoms Extreme microcephaly: Head size is significantly below normal for age and gender due to an underdeveloped brain. Distinct facial features: A sloping forehead and micrognathia (an unusually small lower jaw and chin). Seizures: Generalized tonic-clonic or bilateral seizures often develop. Severe irritability : Infants frequently display extreme irritability starting around the second or third month of life. Temperature instability: Difficulty contr...
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Trichothiodystrophy

Trichothiodystrophy Overview Trichothiodystrophy (TTD) is a rare inherited, genetic disease characterized by a broad spectrum of abnormalities. Patients with different symptoms are linked together by the common feature of short, dry, brittle, sulfur-deficient hair which has a characteristic “tiger tail” pattern (alternating light and dark bands) under polarizing microscopy. The signs and symptoms vary widely between patients. Typically, patients are born preterm and with low birth weight. Maternal pregnancy complications are common. Infants may be born with a shiny parchment-like covering on the skin that peels off over several days to weeks (collodion membrane). Through childhood they may have developmental delay or intellectual disability, short stature with poor weight gain, dry, scaly skin (ichthyosis), eye abnormalities (the most common being congenital cataracts), recurrent infections and bone abnormalities. Nearly half (42%) of patients with TTD have extreme sensitivity to ultra...
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Distal arthrogryposis Type 1

Distal arthrogryposis Type 1 Overview Distal arthrogryposis type 1 is a rare genetic condition that causes non-progressive joint contractures (stiffness and deformities) primarily restricting movement in the hands and feet. It typically does not affect intelligence or involve internal organs. Symptoms Hand and Finger Symptoms Camptodactyly : Permanently bent or flexed fingers that cannot straighten completely. Overlapping fingers: Fingers that cross over one another when the hands are at rest. Ulnar deviation: A hand deformity where the fingers angle outward toward the pinky (fifth) finger. Clasped thumbs: Thumbs pulled tightly across the palm. Foot and Toe Symptoms Clubfoot: Feet that turn inward and upward (talipes equinovarus). Bent toes: Permanently flexed or overlapping toes similar to the finger deformities. General Characteristics Localized impact: Contractures are mostly limited to the distal limbs (hands, wrists, feet). Normal intelligence: Cognitive development and intell...
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Beta-ketothiolase deficiency

Beta-ketothiolase deficiency Overview Beta-ketothiolase deficiency is a rare inherited metabolic disorder that stops the body from properly processing the amino acid isoleucine and ketone bodies. Caused by mutations in the ACAT1 gene, it leads to harmful ketoacidotic crises triggered by fasting or common infections Symptoms Signs of a Metabolic Crises Children with this condition are typically healthy between episodes, but attacks can be triggered by infections, fasting, or high-protein meals. Common signs include: Severe vomiting and poor appetitee Extreme lack of energy or sleepiness (lethargy)Trouble breathing or fast breathing (tachypnea)Dehydration Unusual fruity or sweet-smelling breath/urine Seizures or convulsionss Loss of consciousness or coma in severe cases Long-Term Effects Most children recover quickly if treated during an attack.Repeated or severe untreated crises can lead to developmental delays or intellectual disability.Symptoms often become less frequent or severe as ...
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Autoimmune Lymphoproliferative Syndrome (ALPS)

Autoimmune Lymphoproliferative Syndrome (ALPS) What Is Autoimmune Lymphoproliferative Syndrome? Autoimmune lymphoproliferative syndrome (ALPS) is a condition that makes your body produce too many immune cells. You’ll have far more lymphocytes (a type of white blood cell) than you need. These extra cells also won’t break down when they should. Normally, your body uses lymphocytes to protect you and keep you healthy. When your immune system detects dangerous cells, it creates and sends lymphocytes to attack them. But if you have ALPS, your body can’t keep track of making the right amount. It will constantly make too many. Without targets to attack, the extra lymphocytes damage your body instead of protecting it. Having ALPS can lead to damage in organs and cells throughout your body, including your: Lymph nodes Spleen Blood cells Kidneys Liver Nerves Blood vessels Eyes Symptoms Autoimmune lymphoproliferative syndrome symptoms ALPS symptoms vary. Which ones you have will depend on where t...
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Alpha-Mannosidosis

Alpha-Mannosidosis Overview Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3). The symptoms and severity of the disorder are highly variable. Symptoms may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability and dysfunction of the immune system. Alpha-mannosidosis is caused by changes (variants or mutations) in the MAN2B1 gene. This condition is inherited in an autosomal recessive pattern. Alpha-mannosidosis belongs to a group of diseases known as the lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that function as the primary digestive units. Enzymes within the lysosomes break down...
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