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Congenital Malabsorption of Folic Acid

Hereditary Folate Malabsorption


Presentation

  • Confirm each diagnosis by consulting a section, organized by symptoms, that presents the full range of differential diagnoses and treatment options for each specific condition.[books.google.com]
  • Megaloblastic anaemia was present and profound folate deficiency was evidenced in plasma and in CSF.[link.springer.com]
  • Signs and symptoms [ edit ] Affected infants present within a few months after birth with failure to thrive and severe folate deficiency manifested as macrocytic anemia and developmental delays.[en.wikipedia.org]
  • ., and Camila Hobi Moreira, M.D. 4 Citing Articles A 24-year-old man presented with a 10-year history of recurrent episodes of throbbing, occipital headache associated with complex visual symptoms, lasting from a few minutes to an hour.[nejm.org]
Recurrent Infection
  • Original Investigations 62 Downloads 42 Citations Abstract A Turkish girl presented with a history of fever, diarrhoea, convulsions, recurrent infections and failure to thrive from the age of 5 months.[link.springer.com]
  • Infants with HFM and recurrent infections may die in early infancy, prior to diagnosis. Leukopenia can be a consequence of untreated severe folate deficiency [ Malatack et al 1999, Takeda et al 2002, Zhao et al 2007, Borzutzky et al 2009 ].[ncbi.nlm.nih.gov]
Poor Feeding
Episodic Weakness
  • Weakness 464 Case 73B An African American Man with Hyperthyroidism and Acute Paralysis 470 Case 74 A Boy with Large Muscles Leg Pain and Elevated Serum Creatine Kinase 472 Case 75 A Woman with Proximal Muscle Weakness Calf Hypertrophy Heel Contractures[books.google.com]
Increased Susceptibility to Infections
  • People with hereditary folate malabsorption may also have a deficiency of white blood cells (leukopenia), leading to increased susceptibility to infections.[ghr.nlm.nih.gov]
Feeding Difficulties
  • Infants with hereditary folate malabsorption experience feeding difficulties, diarrhea, and failure to gain weight and grow at the expected rate (failure to thrive). Affected individuals usually develop a blood disorder called megaloblastic anemia.[ghr.nlm.nih.gov]
Abdominal Mass
  • The work is divided into two parts: The first covers gastroentero logical signs and symptoms in childhood, from acute abdominal pain to constipation, to vomiting, to abdominal mass.[books.google.com]
Diplopia
  • An Older Woman with Progressive Muscle Weakness 572 Case 92 An HIVInfected Man with Muscle Weakness and Spasms 577 Case 93 A Woman with Limb Swelling and Pain 581 Case 94 A Man with a Bent Spine 584 Case 95 A Man with Muscle Stiffness and Later with Diplopia[books.google.com]
Foot Deformity
  • Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark Urine 526 Case 84 A Woman with Progressive Proximal Muscle Weakness 533 Case[books.google.com]
Proximal Muscle Weakness
  • Muscle Weakness 533 Case 85 A Sedentary Man with Acute Respiratory Failure and Myoglobinuria 539 Case 86 A Uremic Man with Proximal Muscle Weakness 545 Case 87 A Woman with Weakness Elevated Cholesterol and Serum Creatine Kinase Levels 550 Case 88 An[books.google.com]
Leg Pain
  • […] with Proximal Weakness 448 Case 72 A Young Woman with Distal Upper Extremity Weakness 454 Case 73A A Young Man with Episodic Weakness 464 Case 73B An African American Man with Hyperthyroidism and Acute Paralysis 470 Case 74 A Boy with Large Muscles Leg[books.google.com]
Calf Hypertrophy
  • Hypertrophy Heel Contractures and Elevated Serum Creatine Kinase 480 Case 76 A Young Man with Distal Leg Wasting and Normal Sensation 484 Case 77 A Woman with Droopy Eyelids and Difficulty Swallowing 493 Case 78 A Man with Facial and Shoulder Muscle[books.google.com]
Dark Urine
  • […] and Later Contractures 503 Case 80 A Woman with Longstanding Weakness and Foot Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark[books.google.com]
Irritability
  • Fasciculations 594 Case 97 A Man with Large and Stiff Muscles 601 Case 98 A Boy with Short Stature Small Jaw Muscle Hypertrophy and Stiffness 609 Case 99 An Elderly Woman with Muscle Spasms 612 Case 100 A Woman with Proximal Muscle Weakness and Neuromuscular Irritability[books.google.com]
  • […] iron, folic acid or vitamin B12 Blood disorders such as sickle cell anemia and thalassemia, or cancer Aplastic anemia, a condition that can be inherited or acquired G6PD deficiency, a metabolic disorder Anemia can make you feel tired, cold, dizzy, and irritable[icdlist.com]
  • Megaloblastic anemia : mostly asymptomatic; possibly symptoms of weakness and cardiopulmonary impairment Neurologic symptoms Subacute combined degeneration of the spinal cord : symmetrical paresthesias of the extremities, ataxia, weakness, spasticity Irritability[amboss.com]
  • Symptoms may include: Abnormal paleness or lack of color of the skin Decreased appetite Irritability Lack of energy or tiring easily (fatigue) Diarrhea Difficulty walking Numbness or tingling in hands and feet Smooth and tender tongue Weak muscles The[chw.org]
  • Some of the most common symptoms of megaloblastic anemia include: Abnormal paleness or lack of color of the skin Decreased appetite Irritability Lack of energy or tiring easily (fatigue) Diarrhea Difficulty walking Numbness or tingling in hands and feet[chop.edu]
Cerebral Calcification
  • Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications.[link.springer.com]
  • Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. Blood. 1969;34:452–65. PubMed Google Scholar 4. Lanzkowsky P. Congenital malabsorption of folate. Am J Med. 1970;48:580–3.[doi.org]
  • Lanzkowsky P, Erlandson ME and Bezan AI (1969) Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. Blood 34: 452–465.[els.net]
  • "Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification". Blood. 34 (4): 452–65. PMID 4980683. a b Poncz, M; Colman, N; Herbert, V; Schwartz, E; Cohen, AR (January 1981).[en.wikipedia.org]
Drop Attacks
  • "Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency". Epileptic Disorders. 16 (1): 88–92. doi : 10.1684/epd.2014.0629.[en.wikipedia.org]
  • Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.[ncbi.nlm.nih.gov]
Foot Drop
  • Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly[books.google.com]
Areflexia
  • 67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia[books.google.com]

Workup

  • Although their clinical settings differ considerably, no hematologic finding can distinguish between the 2 conditions; specific testing is necessary (see Workup).[emedicine.medscape.com]
Neurophysiologic Abnormalities
  • Steinschneider M, Sherbany A, Pavlakis S, et al. (1990) Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities. Neurology 40: 1315. Su PC (1976) Congenital folate deficiency.[els.net]
  • Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities. Neurology. 1990; 40 :1315. [ PubMed : 2381546 ] Su PC. Letter: congenital folate deficiency.[ncbi.nlm.nih.gov]
Slow Nerve Conduction Velocities
  • Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly[books.google.com]
Macrocytic Anemia
  • Signs and symptoms [ edit ] Affected infants present within a few months after birth with failure to thrive and severe folate deficiency manifested as macrocytic anemia and developmental delays.[en.wikipedia.org]
  • anemia Subacut combined degeneration of sp.cord Folic acid Vit B (general) Cheliosis, glossitis,A.stomatitis, Acrodermatitis Iron Microcytic anemia Ca & Vit D Osteomalacea (bone pain,pathologic#), Tetany Vit A Follicular hyperkeratosis, Night blindness[slideplayer.com]
  • The megaloblastic effect is characterized by an aregenerative macrocytic anemia with nuclear dysmaturity, where the nucleus appears immature relative to the cytoplasm because of impaired DNA synthesis. See image below.[emedicine.medscape.com]
  • . • folate and B-12 malabsorption result in macrocytic anemia. • Patients with abetalipoproteinemia develop retinitis pigmentosa and ataxia because of chronic fat-soluble vitamin malabsorption and deficiency (vitamins A and E).[slideshare.net]
  • Konstam G (1947) A case of steatorrhea with tetany, osteomalacia and macrocytic anemia. West Lond MED J 52: 14 16. Garrod O (1958) Coeliac dwarfism with anemia and osteomalacia. Proc R Soc Med 51: 722-723.[omicsonline.org]

Treatment

  • Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances.[books.google.com]
  • Treatment [ edit ] Because HFM is a rare disorder, there are no studies that define its optimal treatment.[en.wikipedia.org]
  • […] is recommended to ensure that the CSF folate levels achieved with treatment are adequate.[ncbi.nlm.nih.gov]
  • Poncz M and Cohen A (1996) Long‐term treatment of congenital folate malabsorption. Journal of Pediatrics 129: 948.[els.net]

Prognosis

  • Today, the prognosis is excellent. Replacement therapy with adequate amounts of vitamin B12 will correct the deficiency and allow a person to lead a normal life.[medbroadcast.com]
  • Prognosis Every patient should know that there are no therapy guarantees because the expected course for the individual with malabsorption syndrome varies depending on the cause.[steadyhealth.com]
  • Prognosis Most anemias can be treated or managed. The prognosis for anemias generally depends upon the severity of the anemia, the type of anemia, and the response to treatment.[healthofchildren.com]
  • Prognosis The expected course for the individual with malabsorption syndrome varies, depending on the cause. The onset of symptoms may be slow and difficult to diagnose.[encyclopedia.com]
  • Prognosis • Mucosal atrophy caused by infectious gastroenteritis, food-sensitivity enteropathies, or malnutrition can result in an 80% reduction of intestinal surface area. • Once the causative agent is removed, the repair of the small bowel is usually[slideshare.net]

Etiology

  • ., vitamin B 12 deficiency in patients with diseases affecting the terminal ileum ) Etiology Maldigestion Impaired breakdown of food in the intestinal lumen Exocrine pancreatic insufficiency ; lack of enzymes reduced hydrolysis of carbohydrates, proteins[amboss.com]
  • The etiology is sometimes obvious. For example, patients with malabsorption due to chronic pancreatitis usually have had prior bouts of acute pancreatitis.[msdmanuals.com]
  • Maruf A 2 Malabsorption Impaired absorption of one or more dietary nutrients A pathophysiologic state with multiple etiologies/varied clinical manifestations Dietary nutrient absorption –in small b.[slideplayer.com]
  • Causes of Vitamin B 12 Deficiency States Once vitamin B 12 deficiency is confirmed, a search for the etiology should be initiated.[aafp.org]
  • Other less common causes include the use of metabolic inhibitors such as methotrexate and 6-mercaptopurine and certain rare inborn errors such as thiamine-responsive megaloblastic anemia, [1, 2] Lesch-Nyhan syndrome, and hereditary orotic aciduria (see Etiology[emedicine.medscape.com]

Epidemiology

  • It binds tightly to, and may impede, FRα-mediated endocytosis which plays an important role in the transport of folates across the choroid plexus into the CSF (see above). [30] [22] For a further consideration of treatment see GeneReviews. [5] Epidemiology[en.wikipedia.org]
  • Epidemiology  Genetically determined syndromes • Celiac disease is by far the most common inherited malabsorption syndrome. • Cystic fibrosis is the second most common malabsorption syndrome.  Acquired syndromes • Cow's milk and soy milk protein allergies[slideshare.net]
  • Moderate alcohol consumption and breast cancer in women: from epidemiology to mechanisms and interventions. Alcohol Clin Exp Res. 2013;37(1):23-30. (PubMed) 122. Rohan TE, Jain MG, Howe GR, Miller AB.[lpi.oregonstate.edu]
  • George EK, Jansen TA, Mearin ML, Mulder CJJ: Epidemiology of celiac disease in the Netherlands. J Pediatr Gastroenterol Nutr 1997;24:S7-S9. Ascher H, Kristianson B: The highest incidence of celiac disease in Europe: The Swedish experience.[karger.com]
Sex distribution
Age distribution

Pathophysiology

  • The genomic and clinical features of HFM were recently reviewed. [1] [4] [5] Pathophysiology [ edit ] Extensive clinical studies established that HFM is due to (i) impaired intestinal absorption of folates and (ii) impaired transport of folates across[en.wikipedia.org]
  • Maruf A 2 Malabsorption Impaired absorption of one or more dietary nutrients A pathophysiologic state with multiple etiologies/varied clinical manifestations Dietary nutrient absorption –in small b.[slideplayer.com]
  • Pathophysiology Etio-pathophysiologic classification of vitamin B12 deficiency Nutritional vitamin B12 deficiency (insufficient intake of vitamin B12-rich animal source foods) Vegetarians, near-vegetarians, breast-fed infants of mothers with pernicious[thecardiologyadvisor.com]
  • Several researches done in the past have shown that this condition can be caused by a variety of diseases or conditions, including cystic fibrosis, lactose intolerance and several others… Pathophysiology of the condition It is necessary to point out that[steadyhealth.com]
  • […] protein deficiency) Lead poisoning Leukemia Liver disease/Liver disorders Malabsorption of folic acid Malnutrition / Starvation Megaloblastic anemia Megaloblastic anemia of pregnancy Methotrexate ( Rheumatrex ) Administration/Toxicity Myeloid metaplasia pathophysiology[wikidoc.org]

Prevention

  • Prevention of primary manifestations: Early treatment readily corrects the systemic folate deficiency and can achieve sufficient CSF folate levels to prevent the neurologic consequences of HFM.[ncbi.nlm.nih.gov]
  • There are three possible uses of this new primary preventive method for the prevention of NTDs and CHD: (i) dietary intake of folate, folate rich diet alone is not enough for the prevention of NTDs and CHD; (ii) periconceptional supplementation of FA[mdpi.com]
  • „Effects and Safety of Periconceptional Oral Folate Supplementation for Preventing Birth Defects“. The Cochrane Database of Systematic Reviews , Nr. 12 (14.[fertileaty.com]
  • Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications.[link.springer.com]

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