Glutaric Acidemia Type II (GA2) Information

Introduction

People affected most severely by GA2 might also be born with physical abnormalities that include enlargement of the liver or 'hepatomegaly,' brain malformations, or enlargement and weakening of their heart, referred to as 'dilated cardiomyopathy.' They may be born with unusual facial features, genital abnormalities, or fluid-filled cysts. GA2 may also cause the person affected by the disorder to present with a characteristic odor that resembles sweaty feet.

The U.S. Social Security Administration (SSA) has included Glutaric Acidemia Type II as a Compassionate Allowance to expedite a disability claim.

Main Digest

On the opposite end, some persons are affected with less severe disorder symptoms that start later in their childhood or adulthood. People affected by milder forms of GA2 experience muscle weakness that develops in adulthood as the first sign of the disorder. GA2 is a sporadic disorder reported in several different ethnic groups.

GA2 is an autosomal recessive disorder, meaning that the affected person's parents must be carriers of the disorder and its gene. When both genes combine, their child will be born with GA2. Each of the children from parents who carry the gene for GA2 has a twenty-five percent chance of inheriting the disorder.

People with GA2 have a protein in their body, an inactive enzyme. Two specific enzymes can be associated with GA2; both have similar functions in the person's body. People with GA2 might lack either of them. Electron Transfer Flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETF: QO). These enzymes may be found in several cells within the person's body. They play important roles in the breakdown of proteins and fats and assist in producing energy. The enzymes help with important functions in the person's body, which help them remain healthy.

Causes

Mutations in any genes: ETFA, ETFDH, or ETFB, may result in glutaric acidemia type II (GA2). The ETFB and ETFA genes provide instructions for producing two gene segments that combine to create an enzyme called 'electron transfer flavoprotein.' The ETFDH gene provides instructions for creating an 'electron transfer flavoprotein dehydrogenase enzyme.' A deficiency causes GA2 in these enzymes. Electron transfer flavoprotein and electron flavoprotein dehydrogenase are usually active in a person's mitochondria, the energy-producing centers of their cells. The enzymes assist in breaking down fats and proteins to provide energy for the person's body. Should one of these enzymes be either defective or missing, nutrients that are partially broken down accumulate in the person's cells, damaging them, and causing the signs and symptoms of GA2.

People with GA2 and the resulting gene mutations, resulting in a complete loss of either enzyme produced from the ETFA, ETFB, or ETFDH genes, will probably experience the most severe symptoms associated with the disorder. Mutations that permit the enzymes to function at some level can result in milder forms of GA2. The disorder is also known by other names, including

• GA II
• EMA
• MAD
• MADD
• ETFA deficiency
• ETFB deficiency
• ETFDH deficiency
• Glutaric aciduria, type 2
• Glutaric acidemia, type 2
• Ethylmalonic-adipicaciduria
• Electron transfer flavoprotein deficiency
• Multiple FAD dehydrogenase deficiency
• Multiple acyl-CoA dehydrogenase deficiency

Symptoms of Glutaric Acidemia Type II

People with GA2 can experience nonketotic hypoglycemia, heart disease, acidosis, vomiting, nausea, weakness, lethargy, and liver enlargement. Through a virus or exercise, stress can cause a person with GA2 to experience periods of low blood sugar. Hypoglycemia experienced by persons with GA2 can be severe, making them shaky, weak, and dizzy.

The less severe form of GA2 is called 'late-onset glutaric acidemia type II.' The age of onset can be extremely variable for people with this form of GA2. People affected by late-onset GA2 experience the disorder to varying degrees. Children with the disorder might not experience symptoms until several years old. Some may not experience any symptoms until they have reached adulthood.

There is a form of GA2 referred to as 'neonatal glutaric acidemia type II.' Newborns who develop symptoms of this form of GA2 during the first days of their lives many times do not survive for more than a few weeks or months, unfortunately. The symptoms of the neonatal form of GA2 are severe.

Diagnosing

GA2 is a disorder that can be easily recognized in newborns who experience a complete deficiency of ETF or ETF: QO demonstrated through an abnormal pattern of organic acids in their urine. It is, however, more difficult to achieve a diagnosis in children who experience incomplete defects because the features they experience might be varied or episodic. The organic acids in their urine might present as abnormal, or even slightly abnormal, only when very sick. Achievement of a GA2 diagnosis can be further complicated by the fact that similar organic acid urine changes might be witnessed in deficiency of riboflavin, as well as when infants consume formulas that contain medium-chain triglycerides, something that is common.

The presence of an increase in certain carnitine esters in a child's blood may suggest GA2, although, as in urine organic acids, this might be due to riboflavin deficiency. Studies related to fibroblasts that have been grown from skin biopsies might be the best way to achieve a diagnosis because nutrition does not influence them. Some laboratories test for GA2 and are capable of achieving a diagnosis of the disorder.

Treatment of Glutaric Acidemia Type II

Late onset GA2 is currently being treated through a diet low in protein and fat and high in carbohydrates. This means that people who experience the disorder should consume foods with very little protein or fats because their bodies do not have the enzymes needed to break these elements down properly. People with late-onset GA2 should consume lots of carbohydrates instead of proteins and fats to have enough energy calories. Eating at regular and consistent intervals is recommended to avoid fasting and the potential for low blood sugar levels that might trigger a metabolic crisis. A metabolic nutritionist has the potential to help people with GA2 and their family members with the development of meal planning that meet the affected person's needs. L-carnitine and riboflavin supplements are also recommended for persons with mild or late-onset GA2.

Family members play an important role in effectively treating their loved ones with GA2. Siblings, other family members, and children with GA2 need to learn about the unique dietary considerations associated with the disorder early on. It is also important that people who will contact the person with GA2, such as relatives, babysitters, or teachers, learn the signs of a crisis. These people must have an emergency protocol sheet to prepare for an emergency.

Author Credentials:

Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida. Explore Thomas' complete biography for comprehensive insights into his background, expertise, and accomplishments.

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Cite This Page (APA): Weiss, T. C. (2010, April 9). Glutaric Acidemia Type II (GA2) Information. Disabled World. Retrieved May 17, 2024 from www.disabled-world.com/disability/types/glutaric-acidemia.php

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