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738 Possible Causes for Attention Deficit Disorder - in Those Who Stop Treatment, Mousy Odor, Severe Neonatal Encephalopathy

  • Classical Phenylketonuria

    Each of the patients had a similar clinical presentation or phenotype with features including mental retardation, a "mousy" odor, and dermatitis.[medschool.lsuhsc.edu] odor from the breath, urine and skin.[news-medical.net] Initial symptoms may include: A musty or "mousy" odor of the body and urine Developmental delays in sitting, crawling, and standing Microcephaly If patients remain untreated[medicalhomeportal.org]

    Missing: Severe Neonatal Encephalopathy
  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Severe neonatal-onset encephalopathy with microcephaly is an x-linked recessive disorder caused by mutations of the MECP2 gene. b' ' Systematic References: 1.[moldiag.com] odor of urine 27.[slideshare.net] Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure.MECP2-related severe neonatal encephalopathy is the[ncbi.nlm.nih.gov]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Transient Hyperammonemia of the Newborn

    , several other metabolic disorders, and some toxic encephalopathies. [69] Signs and symptoms Signs and symptoms of early-onset hyperammonemia (neonates) may include the following[emedicine.medscape.com] Homocystinuria Tx is high cystine diet and low methionine, may try pyridoximine Diagnosis associated with musty/mousy odor?[brainscape.com] Increased entry of ammonia to the brain is a primary cause of neurologic disorders, such as congenital deficiencies of urea cycle enzymes, hepatic encephalopathies, Reye syndrome[emedicine.medscape.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Phenylketonuria

    Characteristic physical findings include: light hair, eye, and skin pigmentation an eczematous rash hyperactive behavior a musty or mousy odor (due to phenylacetic acid in[epilepsy.com] The presence of phenylacetate in the urine imparts a "mousy" odor.[themedicalbiochemistrypage.org]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment Severe Neonatal Encephalopathy
  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    Cerebral organic aciduria Cerebrotendinous xanthomatosis Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Cholesterol-ester transfer protein deficiency[se-atlas.de] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] […] form Carnitine palmitoyl transferase II deficiency, severe infantile form Carnitine palmitoyltransferase II deficiency Carnitine-acylcarnitine translocase deficiency Carnosinemia[se-atlas.de]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Glutaric Aciduria Type 2

    The severe infantile form is characterized by a severe fasting intolerance leading to metabolic disorders such as hypoketotic hypoglycemia and hepatic encephalopathy.[pliem.co.za] M usty, mousy Phenylketunuria Y east or malt Oast-house syndrome Smith-Strang diesease B urned sugar smell to urine Maple syrup urine disease Cheesy odor Isovaleric acidemia[mediconotebook.com] Causes microencephalic macrocephaly in neonates and acute damage to the basal ganglia (striatum and putamen) causing severe dystonia and episodes of encephalopathy.[patient.info]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Carnitine Deficiency

    Infants may later exhibit irritability, posturing, increased deep tendon reflexes, a peculiar “mousyodor, and vomiting.[genico.ch] Presentations can range from being completely asymptomatic all the way to severe neonatal encephalopathy [ 3 ].[jmedicalcasereports.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Propionic Acidemia

    Gultaric Acidemia Sweaty feet Maple Syrup urine disease Maple syrup Hypermethioninemia Boiled cabbage Phenylketonuria Mousy or musty Trimethylaminuria Rotten fish Urine Odor[nanopdf.com] Propionic acidemia is a fully penetrant disorder that displays broad clinical heterogeneity ranging from a severe neonatal onset encephalopathy to isolated cardiomyopathy[invitae.com] WITH ABNORMAL ODOR Slide 15 Slide 16 They may come with flattened mid-face, indistinct philtrum, low nasal bridge and single palmar crease.[vdocuments.mx]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Urinary Tract Infection

    […] convulsions Early neonatal infection requiring antibiotics (less than 48 hours) Hypoxic ischaemic encephalopathy Neonatal encephalopathy Composite of severe neonatal morbidity[doi.org] […] defined) Periventricular leukomalacia Necrotising enterocolitis (variously defined) Respiratory distress syndrome (variously defined) Hyperbilirubinaemia requiring treatment Neonatal[doi.org]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment Mousy Odor
  • Transient Neonatal Hypertyrosinemia

    Neonatal and Early Infancy Period Acute Encephalopathy and Metabolic Crash The neonate has a limited repertoire of responses to severe illness.[obgynkey.com] odor, light pigmentation, abnormal gait, autistic behavior, eczema, seizure • Inheritance: Autosomal Recessive Diagnosis: hyperphenylalaninemia, liver enzymes and newborn[quizlet.com] […] for tyrosine hydroxylase (tyrosine to epinephrine) and tryptophan hydroxylase (tryptophan to serotonin) PKU Symptoms and Inheritance • Symptoms: intellectual disability, mousy[quizlet.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment