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MAT deficiency

Beta-ketothiolase deficiency is an uncommon inherited disorder in which the body cannot properly process the amino acid isolecine or the products of lipid breakdown. The condition is inherited in an autosomal recessive pattern and is extremely rare having only been reported in 50 to 60 individuals throughout the world. more...

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The typical age of onset for this disorder is between 6 months and 24 months. The signs and symptoms of beta-ketothiolase deficiency include vomiting, dehydration, trouble breathing, extreme tiredness, and occasionally convulsions. These episodes are called ketoacidotic attacks and can sometimes lead to coma. Attacks occur when compounds called organic acids (which are formed as products of amino acid and fat breakdown) build up to toxic levels in the blood. These attacks are often triggered by an infection, fasting (not eating), or in some cases, other types of stress.

Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. The enzyme made by the ACAT1 gene plays an essential role in breaking down proteins and fats in the diet. Specifically, the enzyme is responsible for processing isoleucine, an amino acid that is part of many proteins. This enzyme also processes ketones, which are produced during the breakdown of fats. If a mutation in the ACAT1 gene reduces or eliminates the activity of this enzyme, the body is unable to process isoleucine and ketones properly. As a result, harmful compounds can build up and cause the blood to become too acidic (ketoacidosis), which impairs tissue function, especially in the central nervous system.

This article incorporates public domain text from The U.S. National Library of Medicine

Read more at Wikipedia.org


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American Graffiti
From St. James Encyclopedia of Pop Culture, 1/29/02 by Bob Sullivan

The 1973 box office and critical smash American Graffiti epitomized the 1950s nostalgia craze, established the device of interweaving multiple stories, inspired such television series as Happy Days and Laverne and Shirley, and boosted the careers of Richard Dreyfuss, Cindy Williams, Candy Clark and, most notably, the film's co-writer and director, George Lucas. The story takes place in 1962--the proper if not the chronological end of the 1950s--when both the kids and the country were innocent. The evening depicted was a month before the Cuban missile crisis, a year before the assassination of John F. Kennedy, and years before the Vietnam War controversy, hippies, radicals, pot, free love, Nixon, and AIDS (Acquired Immune Deficiency Syndrome). But what makes the film universal is the way Lucas captures the innocence of youth, that ephemeral moment when all options are still open, before irrevocable choices must be made. Everything is still possible, and the sky is the limit.

It is a bit surprising that such a popular and influential film almost did not get made. Lucas' first film, THX 1138, was a financial failure, and United Artists rejected the script for American Graffiti that Lucas had written with Gloria Katz and Willard Huyck. But Lucas' friend, Francis Ford Coppola, convinced Universal to back the film, on condition Coppola serve as producer and adviser, and with a $700,000 budget, Universal figured the risk was not great. The movie was shot on location in 28 nights, and the filming was plagued with problems from the outset. On the second night, the entire crew was evicted from the town in which they were shooting, and the assistant cameraman was hospitalized after falling off the camera car and being run over by a trailer. The film came in on time and, after editing, Lucas handed the completed film over to Universal, which was less than thrilled with the finished product. Studio executives were particularly put off by the presence of four central characters whose stories were intertwined. Lucas was furious when the studio cut five minutes from the film before releasing it. But Lucas' vision was vindicated when the film grossed over $100 million domestically, received five Academy Award nominations, and won the Golden Globe and New York Film Critics' Award. Stephen Farber in The New York Times called it "the most important American movie since Five Easy Pieces--maybe since Bonnie and Clyde."

The story, based on Lucas' own youth in Modesto, California, begins when four friends meet up in the parking lot of Mel's Drive-In, a restaurant with roller-skating carhops. The friends are the teenage intellectual Curt (Dreyfuss), the class president Steve (Ron Howard), the nerd Terry "the Toad" (Charles Martin Smith), and the 22-year-old hot rodder John (Paul Le Mat). Three of these characters were based on Lucas himself who began as a nerd, was considered much cooler after winning several racing trophies, and was forced to exercise his intellect after a near-fatal car crash crushed his lungs and ended his racing career; only the class president, Steve, was pure fiction, and the major reason Lucas needed two co-writers. The year of the story may be 1962, but the cars and songs are solidly 1950s, as customized cars driven by ponytailed girls and ducktailed boys tool along the main drag in a mating ritual, with disc jockey Wolfman Jack supplying the tunes. Curt and Steve are due to fly east to college the next morning, but Curt's second thoughts about leaving the safety of his hometown provide the film's backbone. Steve is dating Curt's sister, Laurie (Williams), and she is upset about Steve leaving her behind. When Curt spots a beautiful blonde (Suzanne Somers) in a classic white 1956 T-bird and she mouths the words "I love you," he wants to follow her. Unfortunately, he is in the back seat of his sister's 1958 Edsel, and cannot convince her to follow the T-bird, and spends the rest of the movie trying to track this vision down. Meanwhile, Steve and Laurie argue about his leaving, Toad can not believe his luck when he picks up a beautiful blonde (Clark), and John's cruising style is hampered by the presence of the 13-year-old Carol (Mackenzie Phillips) while his hot-rodding reputation is being challenged by Bob Falfa (Harrison Ford). Curt finally visits Wolfman Jack for advice, and the Wolfman convinces him that "this place ain't exactly the hub of the universe." When morning comes, Laurie has convinced Steve to stay in town, and they, the Toad, John, and Curt's parents say goodbye to Curt at the airport. As his plane wings its way eastward, he glances down and notices a lone car also leaving town and also headed east: a classic white 1956 T-bird.

The film may be nostalgic, but it is never sentimental. While films such as Summer of '42 specialized in a soft-focus romanticism, Lucas bent over backwards to make sure the film was never pretty. One of the world's greatest cinematographers, Haskell Wexler, served as supervising cameraman, to capture Lucas' vision, and the film was shot in grainy Techniscope, in what Lucas called "a sort of jukebox lighting"--or what film co-editor Marcia Lucas termed "ugly." Subsequent films and television shows have tried for this hard-edged nostalgia, but even more influential was the device of interweaving story lines, which has become a television staple, used on shows ranging from Hill Street Blues to Northern Exposure and ER. Significantly, Lucas used part of the profits from the film to help finance his next project: Star Wars.

St. James Encyclopedia of Popular Culture, 2002 Gale Group.

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