Common Autosomal Recessive Disorders - Articles

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Most Common Jewish Genetic Disease: Gaucher Disease by Lisa E. L. Patient Expert

Here are fast facts about Gaucher Disease, the most common genetic condition in Ashkenazi Jewish people.1 in every 18 Ashkenazi Jews is a carrier for Gaucher disease.Carriers are unaffected, but when two carrier have a child, t ... Read on »

Father convicted in infant son's death by Dr. Brian M. Medical Doctor

... using his son. Dr. Cohen claimed that the multiple broken bones suffered by the infant were related to a condition known as methylenetetrahydrofolate reductase deficiency, an autosomal recessive disorder of folate metabolism. Despite defense testimony by both Cohen and forensic pathologist Dr. Jonathan Arden, the jury could not be convinced that Al ... Read on »

A primer on Leigh's disease: a progressive, midline, symmetric, necrotizing neurodegenerative... by Dr. Brian M. Medical Doctor

... ely subacute necrotizing encephalomyelopathy -- is a progressive neurodegenerative disorder of infancy and childhood (but older patients and rare adult cases are recognized). Common clinical findings include signs of dysfunction of the brainstem or basal ganglia such as respiratory abnormalities, nystagmus, ataxia, dystonia, and hypotonia. MRI ofte ... Read on »

There’s Pelizaeus-Merzbacher disease, and then there’s Pelizaeus-Merzbacher-like disease by Dr. Brian M. Medical Doctor

... l form in being associated with a mutation other than PLP1. One genetic substrate of PMLD was first described by Dr. Jutta Gartner’s group in Goettingen, Germany as having an autosomal recessive inheritance pattern associated with mutation in gap junction protein alpha-12 (GJA12). In this study, the Gartner group looked at 193 patients with PMLD an ... Read on »

Neuropathologist provides alternate explanation for child death in Colorado abuse case by Dr. Brian M. Medical Doctor

... rtroom with his lawyers) declined to testify in his trial today. Dr. Cohen stated that the 11-week-old infant suffered from methylenetetrahydrofolate reductase deficiency, an autosomal recessive disorder of folate metabolism causing elevated plasma homocysteine levels. Patients with this rare disease suffer from neurologic developmental delay, and ... Read on »

I’ve posted recently on Ashkenaz... by Lisa E. L. Patient Expert

... they carry one copy of the gene change that causes Bloom Syndrome. When two carriers have a child together, there is a 1 in 4 chance the child will have Bloom Syndrome. (See autosomal recessive inheritance )People with Bloom Syndrome have characteristic appearances that include a long, narrow face, prominent nose and ears, and a smaller-than-avera ... Read on »

Cryptorchidism Problem by heru m. Patient Expert

... to the scrotum is complete by 6-8 weeks of age, occasionally is delayed to as late as 6 months of age. This defect is considered hereditary in most breeds and is sex-linked, autosomal recessive trait. Unfortunatelly, the only recomended treatment is bilateral castration (neuter). Surgical therapy to place a retained testis into the scrotum is an ... Read on »

Porphyria by Dr. Anshu Gupta Patient Expert

... stress, menstrual hormones, and exposure to the sun.Porphyria is diagnosed through blood, urine, and stool tests. Diagnosis may be difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. Each form of porphyria is treated differently. Treatment may involve treating with heme, giving medici ... Read on »

medium chain acylcoenzyme A dehydrogenase deficiency by Martin Eastwood ... land and Northem Ireland includes screening for medium chain acylcoenzyme A dehydrogenase (MCAD) deficiency within the entire newborn population. M CAD deficiency is the most common inherited disorder of mitochondrial fatty acid oxidation in people from northern Europe. This autosomal recessive metabolic disease affects about one in 10000 people in ... Read on »

Fast Facts About Fanconi Anemia (Type C) by Lisa E. L. Patient Expert

A while back, I began a series of short posts on genetic conditions that are most common in people with Ashkenazi Jewish heritage. Now it’s time to pick those back up again. Where were we? Fanconi Anemia.Fanconi Anemia is a blood disorder characterized by d ... Read on »