Disease Information for Ketotic hyperglycinemia, idiopathic

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Clinical Manifestations
Signs & Symptoms
Episodic vomiting
Awkward Uncoordinated Child
Limb Ataxia
Limb ataxia/clumsiness child
Mental Deficiency Child
Mental Slowing Deteriation
Mental/motor retardation in children/signs
Psychomotor retardation
Episodic symptoms/events
Clinical Presentation & Variations
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Episodic clusters of attacks
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Filter paper spot/newborn blood test abnormal
Neonatal metabolic screening (mass spec) abnormal
Newborn screening tests abnormal (extended)
Tandem Mass Spectrometry (MS/MS) abnormal
Urine Chromatography/Metabolic abnormal
Abnormal Lab Findings - Decreased
Carnitine level (LAB)
Vitamin B12, serum (Lab)
Abnormal Lab Findings - Increased
Methylmalonate (LAB)
Methylmalonic acid/CoA serum (MMA) (Lab)
Platelet count (Lab)
URINE Glycine
URINE Organic acids
Associated Diseases & Rule outs
Associated Disease & Complications
Acidosis
Acidosis, metabolic
Carnitine deficiency/systemic
Granulocytopenia/Neutropenia
Hypovitaminosis B12
Ketosis
Ketotic hyperglycinemia metabolic disorder
Mental retardation
Neurodevelopmental disorders
Thrombocytopenia
Thrombocytosis
Vitamin B12 deficiency
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Process
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
Definition

rarew metabolic syndrome combines proprionic acidemia and methylmalonic acidemiamild mental retardation for mild block of enzyme pathways and full blown can be lethal in early infancy; episodic ketosis, acidosis, neutropenia, thrombocytopenia; osteoporosis from chronic acidosis; hyperglycinemia induced by high protein intake or intercurrent infection; this is ddx non-ketotic

hyperglycinemia; proprionic and methylmalonic acidemias are all recessive autosomal; intrauterine dx; glycine increased urine and blood; urine organic acid chromatography; some variants block B12 and produce low methionine and homocystinuria; treat with massive doses of B12, specific amino acid restriction diet; correction of metabolic acidosis; carnitine deficiency risk

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External Links Related to Ketotic hyperglycinemia, idiopathic
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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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