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56 Possible Causes for Possibly Lactic Acidosis upon Stress or Infection, Psychomotor Regression in Infants

  • Isolated Succinate-CoQ Reductase Deficiency

    Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy[genecards.org]

  • Mucopolysaccharidosis

    OBJECTIVE: The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD: Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls.[…][ncbi.nlm.nih.gov]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Mucopolysaccharidosis 2

    Gene. 2013 Sep 10;526(2):150-4. doi: 10.1016/j.gene.2013.05.007. Epub 2013 May 21. Author information 1 Medical Genetics Service, Hospital de Clinicas, Porto Alegre, RS, Brazil. Abstract Hunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by the deficit of the enzyme[…][ncbi.nlm.nih.gov]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Pelizaeus-Merzbacher Disease

    Pelizaeus–Merzbacher disease is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents. [2] Signs and symptoms [ edit ] Hallmark signs and symptoms of Pelizaeus-Merzbacher disease include little or no movement in the arms or legs,[…][en.wikipedia.org]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Diffuse Cerebral Sclerosis of Schilder

    (redirected from Diffuse cerebral sclerosis of schilder ) Also found in: Encyclopedia. Schilder's disease [ shil derz ] Schilder's disease [shil′dərz] Etymology: Paul F. Schilder, Austrian neurologist, 1886-1940 Adrenoleukodystrophy A usually X-linked leukodystrophy in which impaired oxidation of saturated very long-chain[…][medical-dictionary.thefreedictionary.com]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Fucosidosis

    This investigation reports the biochemical findings in a native-born Briton suffering from the adult form of fucosidosis. Alpha-L-fucosidase, alpha-L-iduronidase, and beta-D-galactosidase were studied in cultured fibroblast and leucocytes from the patient with fucosidosis, her maternal grandfather, and several normal[…][ncbi.nlm.nih.gov]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Infantile Neuronal Ceroid Lipofuscinosis

    J Child Neurol. 2011 May;26(5):625-9. doi: 10.1177/0883073810387298. Epub 2011 Mar 29. Abstract This study sought to genetically define the first family diagnosed with neuronal ceroid lipofuscinosis from Qatar. Onset was in late infancy (3 years), and sequencing in the affected children revealed a novel homozygous[…][ncbi.nlm.nih.gov]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Infantile Neuroaxonal Dystrophy

    Infantile neuroaxonal dystrophy (INAD) is a rare inherited, progressive neurodegenerative disease. In most cases, the infants with Infantile neuroaxonal dystrophy appear to grow normally until at about 6-18 months of age, when the symptoms start appearing. Infants may experience delay in achieving psychomotor[…][symptoma.com]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Presenile Dementia with Bone Cysts

    Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy[nectarmutation.org]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Kohlschütter-Tönz Syndrome

    0.100 0 CUI: C1855009 Disease: Psychomotor regression in infants Psychomotor regression in infants phenotype Finding 152 9 0.100 0 CUI: C1855019 Disease: Psychomotor regression[disgenet.org] regression, progressive Psychomotor regression, progressive phenotype Finding 149 0.100 0 CUI: C1851854 Disease: Thin dental enamel Thin dental enamel phenotype Finding 42[disgenet.org] Dysfunction 2502 53 0.300 strong 0 CUI: C1836830 Disease: Developmental regression Developmental regression disease Disease or Syndrome 153 2 0.100 0 CUI: C1850493 Disease: Psychomotor[disgenet.org]

    Missing: Possibly Lactic Acidosis upon Stress or Infection

Further symptoms