Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs), but particularly the basal ganglia, which are regions that help regulate movement. GA1 causes secondary carnitine deficiency, as glutaric acid, like other organic acids, is detoxified by carnitine. Mental retardation may occur. GA1 is an autosomal recessive disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH), encoded by the GCDH gene. Signs and symptoms
The severity of glutaric acidemia type 1 varies widely; some individuals are only mildly affected, while others suffer severe problems. GA1 can be defined as two clinical entities: GA-1 diagnosed at birth or pre-birth and managed through dietary restrictions, and GA-1 diagnosed after an encephalopathic crisis. A crisis may occur under both headings, but the care of individuals diagnosed before a crisis can be managed to avoid most or all injury. GA1 without encephalopathic crisis
Macrocephaly
Babies with glutaric acidemia type 1 often are born with unusually large heads (macrocephaly). Macrocephaly is amongst the earliest signs of GA1. It is thus important to investigate all cases of macrocephaly of unknown origins for GCDH deficiency, given the importance of the early diagnosis of GA1. Macrocephaly is a pivotal clinical sign of many neurological diseases.
Uterine inversion is when the uterus turns inside out, usually following childbirth. Symptoms include postpartum bleeding, abdominal pain, a mass in the vagina, and low blood pressure. Rarely inversion may occur not in association with pregnancy.Risk factors include pulling on the umbilical cord or pushing on the top of the uterus before the placenta has detached. Other risk factors include uterine atony, placenta previa, and connective tissue disorders. Diagnosis is by seeing the inside of the uterus either in or coming out of the vagina.Treatment involves standard resuscitation together with replacing the uterus as rapidly as possible. If efforts at manual replacement are not successful surgery is required. After the uterus is replaced oxytocin and antibiotics are typically recommended. The placenta can then be removed if it is still attached.Uterine inversion occurs in about 1 in 2,000 to 1 in 10,000 deliveries. Rates are higher in the developing world. The risk of death of the mother is about 15% while historically it has been as high as 80%. The condition has been described since at least 300 BC by Hippocrates. Signs and symptoms
Uterine inversion is often associated with significant postpartum bleeding. Traditionally it was thought that it presented with haemodynamic shock "out of proportion" with blood loss, however blood loss has often been underestimated. The parasympathetic effect of traction on the uterine ligaments may cause bradycardia.