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Pyruvate dehydrogenase deficiency is extremely rare, with ~500 reported cases in the medical literature. Due to the rarity and unfamiliarity of the disease, it is likely underdiagnosed [ 7 ] (Shin et al., 2017).
ACADVL is linked with very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD), which has many symptoms, and typically presents as one of three phenotypes. The first is severe, with an early childhood onset and high mortality rate; the most common symptom is this form is cardiomyopathy. The second is a late onset childhood form, with ...
The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well.
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, the effect is usually short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD ...
Fumarase deficiency is caused by a mutation in the fumarate hydratase (FH) gene in humans, which encodes the enzyme that converts fumarate to malate in the mitochondria. Other mutant alleles of the FH gene, located on human chromosome 1 at position 1q42.1, cause multiple cutaneous and uterine leiomyomata , hereditary leiomyomatosis and renal ...
Skin flushing and nasal congestion are the most common symptoms of intolerance after alcohol ingestion. [ 5 ] [ 6 ] It may also be characterized as intolerance causing hangover symptoms similar to the "disulfiram-like reaction" of aldehyde dehydrogenase deficiency or chronic fatigue syndrome .
2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder. [2] It causes the body to be unable to process the amino acid isoleucine properly. Initial case reports identified individuals with developmental delay and epilepsy , however most cases identified through newborn screening have been asymptomatic .
Babygram of stillborn baby with Neu-Laxova syndrome (same case) [1]. Neu–Laxova syndrome (NLS, also known as Neu syndrome; Neu-Povysilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form) [2] is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations.