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  2. Systemic primary carnitine deficiency - Wikipedia

    en.wikipedia.org/wiki/Systemic_primary_carnitine...

    The presentation of patient with SPCD can be incredibly varied, from asymptomatic to lethal cardiac manifestations. [5] Early cases were reported with liver dysfunction, muscular findings (weakness and underdevelopment), hypoketotic hypoglycemia, cardiomegaly, cardiomyopathy and marked carnitine deficiency in plasma and tissues, combined with increased excretion in urine. [5]

  3. 3-Methylcrotonyl-CoA carboxylase deficiency - Wikipedia

    en.wikipedia.org/wiki/3-Methylcrotonyl-CoA...

    Carnitine deficiency is found in about 50% of cases. [18] Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency. [5]

  4. Myoglobinuria - Wikipedia

    en.wikipedia.org/wiki/Myoglobinuria

    Under ideal situations myoglobin will be filtered and excreted with the urine, but if too much myoglobin is released into the circulation or in case of kidney problems, it can occlude the kidneys' filtration system leading to acute tubular necrosis and acute kidney injury. Other causes of myoglobinuria include: McArdle's disease

  5. Fatty-acid metabolism disorder - Wikipedia

    en.wikipedia.org/wiki/Fatty-acid_metabolism_disorder

    Fatty-acid metabolism disorders result when both parents of the diagnosed subject are carriers of a defective gene. This is known as an autosomal recessive disorder. Two parts of a recessive gene are required to activate the disease. If only one part of the gene is present then the individual is only a carrier and shows no symptoms of the disease.

  6. Carnitine - Wikipedia

    en.wikipedia.org/wiki/Carnitine

    Carnitine has no effect on most parameters in end-stage kidney disease, although it may lower C-reactive protein, a biomarker for systemic inflammation. [26] Carnitine blood levels and muscle stores can become low, which may contribute to anemia , muscle weakness, fatigue, altered levels of blood fats, and heart disorders. [ 1 ]

  7. Assessment of kidney function - Wikipedia

    en.wikipedia.org/wiki/Assessment_of_kidney_function

    Abnormal kidney function may cause too much or too little urine to be produced. The ability of the kidneys to filter protein is often measured, as urine albumin or urine protein levels, [2] measured either at a single instance or, because of variation throughout the day, as 24-hour urine tests. [citation needed]

  8. Kidney failure - Wikipedia

    en.wikipedia.org/wiki/Kidney_failure

    Memory problems; Difficulty concentrating; Dizziness; Low blood pressure; Normally proteins are too large to pass through the kidneys. However they are able to pass through when the glomeruli are damaged. This does not cause symptoms until extensive kidney damage has occurred, [23] after which symptoms include: Foamy or bubbly urine

  9. Ornithine transcarbamylase deficiency - Wikipedia

    en.wikipedia.org/wiki/Ornithine_transcarbamylase...

    Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline.

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