Organoacidopathy

Classification according to ICD-10
E70	Disturbances in the metabolism of aromatic amino acids
E71	Disturbances in the metabolism of branched amino acids and fatty acid metabolism
E72	Other disorders of amino acid metabolism
ICD-10 online (WHO version 2019)

Organoacidopathy , synonym : organoaciduria , is an umbrella term for a group of metabolic diseases that affect the breakdown of amino acids or fatty acids and predominantly follow an autosomal recessive inheritance with the accumulation and excretion of organic acids .

For historical reasons, this group of diseases is not diagnosed systematically, but rather on the basis of the common urinalysis technique.

As toxic metabolic intermediates , the organic acids can cause intoxication . This mainly affects the urea cycle , gluconeogenesis , the mitochondrial respiratory chain and renal carnitine reabsorption, resulting in the corresponding clinical symptoms of hyperammonaemia , hypoglycaemia , lactic acidosis , ketosis and carnitine deficiency .

Occurrence

The frequency is given as 1 in 6,000 newborns.

Classification

Three forms can be distinguished according to the age of onset and course:

• Neonatal form , in the newborn, with metabolic encephalopathy
• chronic intermittent form , up to adolescence, in episodes, with ketoacidotic coma and seizures
• chronic progressive form , with recurrent infections, vomiting and macrocephaly

The Orphanet database has the following classification:

• Classical organoacidopathies
  • 2-methylbutyryl-CoA dehydrogenase deficiency , synonym: 2-methylbutyraziduria; Acyl-CoA dehydrogenase deficiency, short / branched chain; Delayed development due to 2-methylbutyryl-CoA dehydrogenase deficiency; SBCAD shortage
  • 3-hydroxy-3-methylglutaric aciduria , synonym: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency; HMG-CoA lyase deficiency; Hydroxymethylglutaric aciduria
  • 3-hydroxy isobutyric acid disease
  • 3-methylglutacon aciduria
  • Beta-ketothiolase deficiency , synonym: 3-ketothiolase deficiency; 3-oxo-thiolase deficiency; Alpha-methyl-acetoacetic aciduria; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; Mitochondrial acetoacetyl coenzyme A thiolase deficiency; T2 deficiency
  • CMAMMA , synonym: malonic and methylmalonic aciduria, combined
  • HIBCH deficiency , synonym: metabolic valine defect; Methacrylate aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
  • Isobutyraziduria , synonym: isobutyryl-CoA dehydrogenase deficiency
  • Isolated carboxylase deficiency
  • Isovaleric acidemia
  • Combined malonic and methylmalonic aciduria
  • Methylmalonic aciduria with or without homocystinuria
  • Multiple carboxylase deficiency
  • Propionic acidemia , synonym: Glycinämie, ketotic; Propionic aciduria; Propionyl CoA carboxylase deficiency
• Cerebral organoacidopathies
  • 2-hydroxy glutaric aciduria
  • Encephalopathy with associated aminoacylase 1 deficiency , synonym: ACY1D; N-acyl-L-amino acid amidohydrolase deficiency
  • Glutaric aciduria
  • HSD10 deficiency
  • Canavan's disease

Clinical manifestations

• Manifestation in 70% in the newborn age
• Refusal to drink, vomiting , somnolence up to apathy
• Hypotonia

In addition, skin changes such as erythema or alopecia can occur.

The course of organoacidopathies is characterized by a neonatal metabolic crisis in which severe metabolic encephalopathy occurs a few days after the first ingestion of food .

diagnosis

In blood serum , a place metabolic acidosis , and hypoglycemia , leucopenia , thrombocytopenia and electrolyte abnormalities .

treatment

If organoacidopathy is suspected, proteins must not be administered. After surviving the acidosis, milk food is slowly fed back and the protein tolerance is determined. In some cases, the addition of biotin, vitamin B12, carnitine and vitamin B1 helps. An exchange transfusion is necessary in severe cases.

forecast

The prognosis depends on the metabolic defect and the early start of treatment.

See also

See also: metabolic disorder , metabolism , hereditary diseases

Individual evidence

1. ^ ^{A b c} M. R. Seashore: The Organic Acidemias: An Overview
2. ↑ ^{a b c d e f g} Entry on organoacidopathy in Flexikon , a wiki of the DocCheck company
3. ^ J. Zschocke, GF Hoffmann: Organoazidopathien. In: Monogenic Hereditary Diseases 1 pp. 253–277, In: Handbook of Molecular Medicine book series (HDBMOLEK, volume 6), Online ISBN 978-3-642-57043-8 Springer Link
4. ↑ 2-methylbutyryl-CoA dehydrogenase deficiency. In: Orphanet (Rare Disease Database).
5. ↑ 3-Hydroxy-3-methylglutaric aciduria. In: Orphanet (Rare Disease Database).
6. ↑ 3-Hydroxy-Isobutyric Acid Disease. In: Orphanet (Rare Disease Database).
7. ↑ Beta-ketothiolase deficiency. In: Orphanet (Rare Disease Database).
8. ↑ Malonic and methylmalonic aciduria, combined. In: Orphanet (Rare Disease Database).
9. ↑ Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency. In: Orphanet (Rare Disease Database).
10. ↑ Isobutyryl-CoA dehydrogenase deficiency. In: Orphanet (Rare Disease Database).
11. ↑ Malonic and methylmalonic aciduria, combined. In: Orphanet (Rare Disease Database).
12. ↑ Methylmalonic acidemia with homocystinuria. In: Orphanet (Rare Disease Database).
13. ↑ Methylmalonic acidemia without homocystinuria. In: Orphanet (Rare Disease Database).
14. ↑ Propionic acidemia. In: Orphanet (Rare Disease Database).
15. ↑ Encephalopathy with associated aminoacylase 1 deficiency aminoacylase deficiency. In: Orphanet (Rare Disease Database).

Web links

• J. Gick: Organoacidopathies. A guide for patients, parents and families
• EIMD

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !