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Summary
3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (SCHAD)
HADH DEFICIENCY, SCHAD DEFICIENCY, FORMERLY
231530
OMIM = Online Medalian Inheritance of Men
71212
4q25
  • diazoxide
rare
autosomal recessive
short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods [Camtosum E et al. 2015]
symptoms
brown colored urine
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, hypertrophic
encephalopathy
feeding difficulties, poor feeding
hyperinsulinism
hypoglycemia
hypoketotic hypoglycemia
hypotonia
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
liver failure
liver involvement or dysfunction
mental retardation
microcephaly (<2 SD for age)
muscle weakness
onset, childhood
onset, infancy
Organic acids, urine
seizures
sudden death
vomiting
laboratory finding
Short-chain 3-hydroxyacyl-CoA dehydrogenase 2.485.108.70-Ámol/min/g tissuemuscle
Adipic acid0.000.00 increasedurineno data
Suberic acid 1.0011.00increasedurine
Sebacic acid 0.002.00increasedurine
3-Hydroxybutyric acid0.000.000.003.00increasedurinechildhood 6-12y
3-Hydroxydodecanedioic acid 10.00100.00increasedurine
Ketone bodies +++urine
Glucose 3.305.50decreasedblood
Myoglobin0.000.00 increasedurineno data
Dicarboxylic acids0.000.00 increasedurineno data
Transaminases increasedserum
Creatine kinase increasedserum
3-Hydroxybutyrylcarnitine (C4-OH) increasedplasma, DB
3-Hydroxyglutaric acid increasedurine
Ammonia increasedblood
Literature
Puwanant M,Mo-Suwan L, Patrapinyokul SRecurrent D-lactic acidosis in a child with short bowel syndromeAsia Pac J Clin Nutr142195-1982005
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Goulet OColomb-Jung V, Joly FRole of the colon in short bowel syndrome and intestinal transplantationJ Pediatr Gastroenterol Nutr480S66-712009
Kristiansson Bet al.The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoproterin syndrome type I)J Inherit Metab Dis210112-1241998
Uchida H,et al.D-lactic acidosis in short-bowel syndrome managed with antibiotics and probioticsJ Pediatr Surg394634-6362004
Dahhak S,et al.D-lactic acidosis in a child with short bowel syndromeArch Pediatr152145-1482008
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Uribarri J,Oh MS, Carroll HJD-lactic acidosis. A review of clinical presentation, biochemical features, and pathophysiologic mechanismsMedicine (Baltimore)77273-821998
Anagha Medsinge,Ken K NischalPediatric cataract: challenges and future directionsClin Ophthalmol9077-902015
Sabina RLHolmes EWMyadenylate deaminase deficiency The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.201769-17801995
Schmidts M,et al.D-Laktatazidose - Rechts-Links-Schwaeche in der LabornalytikKlinische Paediatrie22101092009
Brusilow SWHorwich ALUrea cycle enzymesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101187-12321995