HMG-CoA lyase deficiency

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Do people with HMG-CoA lyase deficiency have normal life spans?

If HMG-CoA lyase deficiency is diagnosed early and treated appropriately, life expectancy is not shorter than normal. However, the condition is fatal in up to 20% (1 in 5) of cases. Neurological damage obtained during metabolic crises or hypoglycemic coma may be irreversible, potentially leading to hearing or vision loss, learning difficulties, and intellectual or cognitive impairments.

References
  • "3-Hydroxy-3-Methylglutaric Aciduria." Orphanet: About Orphan Drugs, August 2014; [link url= "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=20"] https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=20 [/link] Accessed 19JAN2019
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Can I get pregnant if I have HMG-CoA lyase deficiency?

Can I prevent having a child with HMG-CoA lyase deficiency?

Where can I get genetic testing for HMG-CoA lyase deficiency?

Is HMG-CoA lyase deficiency contagious?

Can you tell someone has HMG-CoA lyase deficiency by looking at them?

I had genetic testing for my ancestry. Can it give me information about HMG-CoA lyase deficiency?

Can I get tested for HMG-CoA lyase deficiency if I didn't have newborn screening?

When can I stop treatment for HMG-CoA lyase deficiency?

How do I get early intervention for my child with HMG-CoA lyase deficiency?

Can I get pregnant if I have HMG-CoA lyase deficiency?

There are limited reported cases of pregnancy in women with HMG-CoA lyase deficiency. As of January 2019, there are only three reported women who have become pregnant with HMG-CoA lyase deficiency, two of which made it to term and delivery. Complications in these cases include metabolic decompensation (often characterized by abnormal behavior, drowsiness, and a glazed look) in the first trimester or during labor and delivery, metabolic acidosis, premature rupture of membranes, intrapartum bleeding requiring transfusion, tachycardia, hypertension, and miscarriage. Additionally, first trimester nausea and vomiting appears to be worse that in typical pregnancies. It is recoommended that pregnant patients with HMG-CoA lyase deficiency be followed and treated at a tertiary care center during pregnancy, delivery, and the following birth by a biochemical geneticist, dietitian, and high-risk obstetrician.

References
  • Pipitone A, Raval DB, Duis J, Vernon H, Martin R, Hamosh A, Valle D, Gunay-Aygun M. The Management of Pregnancy and Delivery in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Am J Med Genet A, 2016;170(6): 1600-1602.
  • Langendonk JG, Roos JCP, Angus L, Williams M, Karstens FPJ, de Klerk JBC, Maritz C, Ben-Omran T, Williamson C, Lachmann RH, Murphy E. A series of pregnancies in women with inherited metabolic disease. J Inherit Metab Dis. 2012;35:419-424.
Can I prevent having a child with HMG-CoA lyase deficiency?

Couples who are both carriers of HMG-CoA lyase deficiency and are at-risk of having a child with the condition can discuss their reproduction options with a doctor or genetic counselor.

Options include:

  • Natural conception with chorionic villus sampling (CVS) or amniocentesis testing early in the pregnancy - If the fetus is found to have HMG-CoA lyase deficiency, the family can chose whether or not to continue the pregnancy.
  • In vitro fertilization with preimplantation genetic testing (IVF with PGT) - This method involves fertilizing embryos in a laboratory and testing each embryo for the genetic changes. Only embryos without the changes are implanted.
  • Egg or sperm donation - If both the prospective parents are known to be carriers of HMG-CoA lyase deficiency, the couple can choose to use a donated egg or sperm from a person without a known genetic variant in the gene.
  • Adoption - A family could choose to adopt a non-biological child.

Reproductive decisions are different for each family. For more detailed information about your options you can speak with a genetic counselor.

In the United States, you can find a genetic counselor near you by clicking here.

References
Where can I get genetic testing for HMG-CoA lyase deficiency?

Diagnostic laboratories that perform genetic testing for HMG-CoA lyase deficiency can be found by clicking here.

Is HMG-CoA lyase deficiency contagious?

HMG-CoA lyase deficiency is a genetic disorder which is caused by genetic changes (variants) that are inherited, but is not contagious. People cannot catch HMG-CoA lyase deficiency through touch, coughing, handshakes, etc.

References
Can you tell someone has HMG-CoA lyase deficiency by looking at them?

There are no obvious physical symptoms of HMG-CoA lyase deficiency. Affected individuals do not have distinctive facial features or other physical abnormalities.

References
  • "3-Hydroxy-3-Methylglutaric Aciduria." Orphanet: About Orphan Drugs, August 2014; [link url= "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=20"] https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=20 [/link] Accessed 19JAN2019
  • Organic Acid Oxidation Disorders: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Screening, Technology and Research in Genetics (STAR-G). April 20, 2016; http://www.newbornscreening.info/Parents/organicaciddisorders/HMGCoA.html#4. Accessed 19JAN2019
  • Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY, MIM Number:246450: 07/17/2017 : https://www.omim.org/entry/246450 Accessed 19JAN19.
  • "HMG-CoA Lyase Deficiency - Genetics Home Reference - NIH." U.S. National Library of Medicine, National Institutes of Health, 2019, ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency Accessed 19JAN2019
I had genetic testing for my ancestry. Can it give me information about HMG-CoA lyase deficiency?

Genetic tests for ancestry and other online direct-to-consumer (DTC) tests, such as 23andMe do not provide information about HMG-CoA lyase deficiency. The technology used in these tests is different from the technology used in a clinical laboratory test for HMG-CoA lyase deficiency. Although these types of tests look at your DNA, they are only looking at a small portion of the genes in your body, which are specific to ancestry or other traits. Testing for HMG-CoA lyase deficiency looks at the whole HMGCL gene.

If you would like to discuss the results of your ancestry or other direct-to-consumer test, talk with your doctor. You can also discuss the reports with a medical geneticist or genetic counselor.

You can find a genetic counselor near you by clicking here.

Can I get tested for HMG-CoA lyase deficiency if I didn't have newborn screening?

Testing is available for individuals with a clinical suspicion of HMG-CoA lyase deficiency if they have not had a newborn screening test. If you or your child are experiencing symptoms of HMG-CoA lyase deficiency, you should speak to your doctor or genetic counselor to see if genetic or biochemical testing is right for you.

You can find a genetic counselor near you by clicking here.

References
When can I stop treatment for HMG-CoA lyase deficiency?

Treatment of HMG-CoA lyase deficiency is often needed throughout life. Not all treatments are right for all patients. Make sure to consult with your physician and/or dietician before beginning, stopping, or changing any treatments.

To find a metabolic dietician near you, click here

References
  • To find a metabolic dietician near you, click here
How do I get early intervention for my child with HMG-CoA lyase deficiency?

Early intervention services are available to babies and toddlers who have a developmental delay or disability caused by HMG-CoA lyase deficiency. Each state has their own eligibility criteria. Typically, this begins with an evaluation to learn more about the child's delay or disability, and to learn more about what areas they could use more help in.

Some resources are available here.

Additionally, your child's doctor, genetic counselor, or other healthcare provider can give you more information about early intervention services in your area.

References

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