User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Acute Intermittent Porphyria (AIP)
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Acute intermittent porphyria is often called AIP. Doctors may also write acute hepatic porphyria (AHP) — AIP subtype. Older names include Swedish porphyria ...

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Acute Liver Failure and Neurodegeneration Syndrome
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Neurodegeneration” means slow damage and loss of nerve cells in the brain or spinal cord. Over time, this causes problems with memory, thinking, movement, ...

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Autosomal Recessive Spinocerebellar Ataxia-21 With Hepatopathy
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Autosomal recessive spinocerebellar ataxia-21 with hepatopathy (often abbreviated SCAR21) is a very rare genetic disorder caused by harmful changes (mutations) ...

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Autosomal Recessive Spinocerebellar Ataxia 21 with Hepatopathy
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Autosomal recessive spinocerebellar ataxia 21 with hepatopathy is a very rare inherited disorder caused by harmful changes in the SCYL1 gene. “Autosomal ...

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Acute Infantile Liver Failure Cerebellar Ataxia Peripheral Sensory Motor Neuropathy Syndrome
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This is a very rare, inherited (autosomal recessive) disorder caused by harmful changes in a gene called SCYL1. Children with this condition can have repeated ...

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Infantile Liver Failure
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Infantile liver failure means a baby’s liver suddenly stops working well. The liver cleans the blood, makes bile, controls sugar and clotting, and helps fight ...

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Transient Infantile Liver Failure
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Transient infantile liver failure is a rare condition in which a young baby’s liver suddenly stops working well, but then improves over time with the right ...

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Acute Infantile Liver Failure Due to Synthesis Defects
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Acute infantile liver failure due to synthesis defects is a sudden, life-threatening breakdown of liver function in a baby (newborn to about 12 months old) ...

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Weston-Hurst Syndrome
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Weston-Hurst syndrome is a sudden, very severe inflammation of the brain’s white matter. It often starts a few days to weeks after a viral or bacterial ...

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Acute Necrotizing Hemorrhagic Leukoencephalitis (ANHL)
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Acute necrotizing hemorrhagic leukoencephalitis (ANHL) is a very rare, sudden, and severe inflammation of the brain’s white matter. Doctors also call it “Hurst ...

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Acute Hemorrhagic Encephalomyelitis (AHEM)
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Acute hemorrhagic encephalomyelitis is a sudden and very aggressive inflammation of the brain (and sometimes the spinal cord). It attacks the white matter, ...

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Acute Haemorrhagic Leucoencephalitis (AHLE)
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Acute haemorrhagic leucoencephalitis (AHLE)—also called Hurst disease, Weston Hurst syndrome, acute haemorrhagic encephalomyelitis (AHEM)—is a very rare, ...

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Acute Hemorrhagic Leukoencephalitis (AHLE)
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Acute hemorrhagic leukoencephalitis (AHLE) is a very rare, very fast-moving disease of the brain. It is a severe form of inflammation that attacks the white ...

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Fulminant Graft-Versus-Host Disease (GVHD)
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Fulminant GVHD is a sudden, very severe form of acute GVHD that happens after a stem-cell or bone-marrow transplant. In GVHD, donor immune cells (mostly ...

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Acute Graft-versus-Host Disease (aGVHD)
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Acute graft-versus-host disease (aGVHD) is a complication after an allogeneic hematopoietic stem-cell or bone-marrow transplant. Donor immune cells (mainly T ...

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Acute Flaccid Myelitis (AFM)
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Acute flaccid myelitis (AFM) is a sudden illness that damages the gray matter of the spinal cord, especially the front (anterior horn) cells that control ...

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Acute Fatty Liver of Pregnancy
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Acute Fatty Liver of Pregnancy is a rare, life-threatening liver problem that usually appears late in pregnancy (third trimester) or in the early days after ...

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M6 Acute Myeloid Leukaemia
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M6 AML is a rare, aggressive blood cancer where malignant cells come mainly from the red-cell (erythroid) line. In the older FAB system it was “M6” or ...

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Erythroblastic Leukaemia
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Erythroblastic leukaemia is a rare, fast-growing blood cancer. It starts in the bone marrow. The bone marrow is the soft center inside bones where blood cells ...

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Acute Myeloid Leukaemia M6
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Acute myeloid leukaemia M6 is an aggressive blood cancer where very early red-blood-cell precursors (erythroblasts) grow out of control in the bone marrow. ...

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