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Doctor insights on: Inherited Metabolic Disorders In Fetus

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Dr. William Singer
4 doctors shared insights

Inherited Metabolic Disorders In Fetus (Overview)

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What causes genetic abnormalities in fetus?

What causes genetic abnormalities in fetus?

A few things: Often genetic abnormalities arise spontaneously. Some are due to genetic problems that are passed down in family lines. Some are due to the way the chromosomes from sperm and egg meet and form in an embryo. Lastly, some can be due to exposure radiation which can damage genes. If you're worried that your fetus might have abnormality, you can discuss with geneticist to understand risks. ...Read more

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Dr. William Singer
4 doctors shared insights

Inherited Metabolic Disorders In Fetus (Overview)

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Dr. Adam Lewis Dr. Lewis
<b>3</b> doctors agreed:
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Living with Borderline Personality Disorder (Checklist)

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Is fetal alcohol syndrome a gene disorder or chromosome disorder?

Is fetal alcohol syndrome a gene disorder or chromosome disorder?

Neither: While the risk for FAS may be elevated in someone with genetic sensitivity, fetal alcohol is due to the birth defects of drinking alcohol during pregnancy. ...Read more

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Dr. Miroslava Fox Dr. Fox
<b>1</b> doctor agreed:
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Living with Manic Depressive Disorder (Checklist)

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Is homocystinuria a genetic or chromosomal disorder?

Is homocystinuria a genetic or chromosomal disorder?

See below: Homocystinuria is a genetic disorder which affects the metabolism of the aminoacid methionine. It is inherited as a autosomal recessive trait trait, ie the child must inherit the non working gene from both the parents to be affected. It presents as failure to thrive, mental retardation, visual problems and bone problems. ...Read more

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Do genes with kabuki indicators overlap with congenital disorders of glycosylation or lysosome storage diseases? Or are they all in separate areas?

Do genes with kabuki indicators overlap with congenital disorders of glycosylation or lysosome storage diseases? Or are they all in separate areas?

Kabuki: The genetics of kabuki are unclear with some cases thought to be x-linked and others following an autosomal dominant pattern of inheritence. It is estimated that 2/3 are related to a gene on chromosome 12 (mll2) which may be responsible for variable gene expression (epigenetics). While epigenetic variation opens the door to many disorders, none of these directly related to glycosylation or lsd. ...Read more

Dr. Barbara Lavi Dr. Lavi
<b>1</b> doctor agreed:
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Is gaucher's disease a metabolic or genetic disorder?

Both: Gaucher disease is passed as an autosomal recessive genetic defect. It involves improper coding for an enzyme that would otherwise process and remove excess buildup of glycolipids from a variety of cells in the body. ...Read more

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Living with Bipolar Disorder (Checklist)

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Are mitochondrial diseases considered metabolic disorders?

Are mitochondrial diseases considered metabolic disorders?

No: no, mitochondrial diseases related to certain internal cellular issues and their discombobulation's. Metabolic diseases include for the most part diabetes, obesity, Dysmetabolic syndrome, which are a separate type of disease process than internal internal cellular constituents such as mitochondria ...Read more

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What are some disorders or genetic diseases that only affects female offspring?

What are some disorders or genetic diseases that only affects female offspring?

Rarely: These are generally rare but some mitochondrially inherited conditions may appear to preferentially affect females. There are also a few x-linked dominant conditions which are lethal to males and so only affected females survive. ...Read more

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Treating Obsessive Compulsive Disorder (Checklist)

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What types of inherited metabolic disorders?

What types of inherited metabolic disorders?

Many types: Metabolic syndrome is insidious. Many features of disease are initially asymptomatic. High blood pressure in early stages is not perceived. Cholesterol issues are asymptomatic unless present for some time. Women may have symptoms of irregular menses, or increased facial hair, but may think this not too abnormal. If you have increasing weight, most on the gut, get checked out by your pcp. ...Read more

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Does genetic/ chrosome testing detect metabolic disorders? How early are serious metabolic disorders usually detected? Usually by age 2?

Does genetic/ chrosome testing detect metabolic disorders? How early are serious metabolic disorders usually detected? Usually by age 2?

Talk to a DR : Or a geneticist about testing of metabolic disorders. Google online for more info. Severity varies on the presence of dominant vs. Recessive traits, sex linked chromosomes, strong family history etc.Some of these conditions can be detected at birth.Take care! ...Read more

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What is the result of neonatal screen positive in inherited metabolic disorders?

What is the result of neonatal screen positive in inherited metabolic disorders?

Depends: A screening test is a relatively simple & inexpensive test designed to narrow down the number of patients brought in for the more expensive specific tests. For every 10, 000 screened, 100 may show positive & secondary tests will show 2--3 with a real problem. The screen eliminated 99% that didn't need a specific test.The state notifies me of + screens & we get the tests.If a real pbm, rx is atarted. ...Read more

Galactose Restriction (Definition)

Milk and milk products contain the sugar galactose. For babies who cannot tolerate galactose, this means avoiding breast milk and typical milk-based formulas. They can take some lactose-free formulas, including soy formulas ...Read more